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"generalized nonmutilating ausomal recessive dystrophic epidermolysis b"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
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¿µ¹® recessive ÇÑ±Û ¿­¼º
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  ´ë¸³ÇüÁú Áß ÀâÁ¾ Á¦1´ë¿¡¼­ ¼û¾î¼­ ³ªÅ¸³ªÁö ¾Ê´Â ÇüÁú. ¿ì¼º¿¡ ´ëÀÀµÇ´Â ¸»ÀÌ´Ù. ³ªÅ¸³ª´Â ÂÊ¿¡ ´ëÇØ ¿­¼ºÀ̶ó Çϰí, ±× ÇüÁúÀ» ¿­¼ºÇüÁúÀ̶ó°í ÇÑ´Ù. Á¦2´ë(F2)¿¡¼­´Â ¿­¼ºÇüÁúÀº ºÐ¸®µÇ¾î 1/3ÀÇ ºñÀ²·Î ³ªÅ¸³­´Ù. À¯ÀüÀû ´ë¸³ÇüÁú¿¡´Â ¿ì¼º°ú ¿­¼ºÀÌ ÀÖ°í, À̰͵éÀº ¿ì¼ºÀ¯ÀüÀÚ¿Í ¿­¼ºÀ¯ÀüÀÚ¿¡ ÀÇÇØ Áö¹èµÈ´Ù. ¿¹¸¦ µé¸é, ¾î¶² ¿ì¼ºÇüÁúÀ» Áö¹èÇϴ À¯ÀüÀÚ¸¦ A¶ó Çϰí, ±×°Í¿¡ ´ëÀÀÇϴ ¿­¼ºÀ¯ÀüÀÚ¸¦ a¶ó°í Çϸé, ¿ì¼ºÀ¯ÀüÀÚ¸¦ °¡Áø ¾î¹öÀÌ(AA)¿Í ¿­¼ºÀ¯ÀüÀÚ¸¦ °¡Áø ¾î¹öÀÌ(aa)ÀÇ ±³¹è¿¡ ÀÇÇÏ¿© »ý±ä ÀâÁ¾ Á¦1´ë(F1)´Â Aa°¡ µÇ¾î ¿ì¼ºÇüÁúÀ» ³ªÅ¸³½´Ù. Aa À¯ÀüÀÚ¸¦ °¡Áø F1³¢¸®¸¦ ±³¹èÇϸé ÀâÁ¾ Á¦2´ë(F2)¿¡¼­´Â AA:Aa:aa°¡ 1:2:1ÀÇ ºñÀ²·Î ºÐ¸®µÇ¾î ¿­¼ºÇüÁúÀº F2´ë¿¡ 1/3ÀÇ ºñÀ²·Î »ý±ä´Ù. ¿ì¼º-¿­¼ºÀ̶õ ÇüÁúÀÇ °¡Ä¡ ¿ì¿­À» ¸»Çϴ °ÍÀÌ ¾Æ´Ï´Ù. ¿­¼ºÀÌ µÚ¶³¾îÁ³´Ù´Â ÀλóÀ» Áشٰí ÇÏ¿© ¿­¼ºÀ» ÀἺÀ¸·Î, ¿ì¼ºÀ» Çö¼ºÀ¸·Î ÇÏÀÚ°í ÁÖÀåÇϴ ÇÐÀÚµµ ÀÖ´Ù.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • dystrophic calcification
    ºñÁ¤»óÁ¶Á÷¼®È¸È­
  • epidermolysis
    Ç¥Çǹڸ®(Áõ)
  • hyperplastic epidermolysis bullosa
    Áõ½Ä¹°ÁýÇ¥Çǹڸ®Áõ
  • autosomal recessive disorder
    º¸Åë¿°»öü¿­¼ºÁúȯ
  • autosomal recessive trait
    º¸Åë¿°»öü¿­¼º¼ÒÁú, »ó¿°»öü¿­¼º¼ÒÁú
  • homozygous recessive
    µ¿Á¾Á¢ÇÕ¿­¼º-
  • recessive
    1. ¿­¼º- 2. ¿­¼º¼ÒÁú, ¿­¼º´ë¸³À¯ÀüÀÚ
  • recessive character
    ¿­¼ºÇüÁú
  • recessive gene
    ¿­¼ºÀ¯ÀüÀÚ
  • recessive hereditary disease
    ¿­¼ºÀ¯Àüº´
  • recessive heredity
    ¿­¼ºÀ¯Àü
  • recessive inheritance
    ¿­¼ºÀ¯Àü
  • recessive mutation
    ¿­¼ºµ¹¿¬º¯ÀÌ
  • recessive trait
    ¿­¼º¼ÒÁú
  • X-linked recessive inheritance
    X¿¬°ü¿­¼ºÀ¯Àü
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 7 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • epidermolysis
    Ç¥Çǹڸ®Áõ
  • generalized epilepsy
    Àü½Å°£Áú
  • recessive inheritance
    ¿­¼ºÀ¯Àü
  • generalized peritonitis
    ¹üº¹¸·¿°, ¿Â¹è¸·¿°
  • recessive
    ¿­¼º-
  • generalized seizure
    ´ë¹ßÀÛ
  • autosomal recessive trait
    º¸Åë¿°»öü¿­¼º¼ÒÁú
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • recessive dystrophic epidermolysis bullosa
    ¿­¼ºÀ§Ã๰ÁýÇ¥Çǹڸ®Áõ
  • dystrophic calcification
    ºñÁ¤»óÁ¶Á÷¼®È¸È­
  • epidermolysis
    Ç¥Çǹڸ®Áõ
  • hereditary bullous epidermolysis
    À¯Àü¹°ÁýÇ¥Çǹڸ®Áõ
  • hyperplastic epidermolysis bullosa
    Áõ½Ä¹°ÁýÇ¥Çǹڸ®Áõ
  • autosomal recessive disorder
    º¸Åë¿°»öü¿­¼ºÁúȯ
  • autosomal recessive trait
    º¸Åë¿°»öü¿­¼º¼ÒÁú
  • recessive character
    ¿­¼ºÇüÁú
  • recessive hereditary disease
    ¿­¼ºÀ¯Àüº´
  • recessive gene
    ¿­¼ºÀ¯ÀüÀÚ
  • homozygous recessive
    µ¿Á¾Á¢ÇÕ¿­¼º
  • recessive heredity
    ¿­¼ºÀ¯Àü
  • recessive homozygote
    ¿­¼ºÈ£¸ðÁ¢ÇÕü
  • recessive inheritance
    ¿­¼ºÀ¯Àü
  • X-linked recessive inheritance
    ¿¢½º¿¬°ü¿­¼ºÀ¯Àü
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized nonmutilating ausomal recessive dystrophic epidermolysis b
    Àü½Å¼º ºñÀý´Ü¼º »ó¿°»öü ¿­¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized autosomal recessive dystrophic epidermolysis bullosa
    Àü½Å¼º »ó¿°»öü ¿­¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • recessive dystrophic epidermolysis bullosa
    ¿­¼º ¿µ¾çÀå¾Ö ¼öÆ÷ Ç¥Çǹڸ®Áõ
  • Herlitz disease => generalized junctinal epidermolysis bullosa
    Àü½Å¼º °æ°è¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • hereditary bullous epidermolysis ³ª e.bullosa hereditaria
    À¯Àü¼º Ç¥ÇǼöÆ÷Áõ.
  • hyperplastic epidermolysis bullosa
    °úÇü¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • homozygous recessive
    µ¿ÇüÁ¢ÇÕ¼º ¿­¼º.
  • recessive
    ¿­¼º(æëàõ)
  • recessive
    ¿­¼º(æëàõ)ÀÇ
  • recessive
    ¿­¼ºÇüÁú.
  • recessive
    ¿­¼ºÀÇ.
  • recessive autosomal gene
    ¿­¼ºº¸Åë¿°»öüÀ¯ÀüÀÚ
  • recessive character
    ¿­¼ºÇüÁú(¡­û¡òõ).
  • recessive gene
    ¿­¼ºÀ¯ÀüÀÚ(¡­ë¶îîí­).
  • recessive gene
    ¿­¼ºÀ¯ÀüÀÚ
  • recessive gonosomal gene
    ¿­¼º¼º¿°»öüÀ¯ÀüÀÚ
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized nonmutilating ausomal recessive dystrophic epidermolysis b
    Àü½Å¼º ºñÀý´Ü¼º »ó¿°»öü ¿­¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized autosomal recessive dystrophic epidermolysis bullosa
    Àü½Å¼º »ó¿°»öü ¿­¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemen
    »ó¿°»öü ¿­¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • recessive dystrophic epidermolysis bullosa
    ¿­¼º ¿µ¾çÀå¾Ö ¼öÆ÷ Ç¥Çǹڸ®Áõ
  • dominant dystrophic epidermolysis bullosa
    ¿ì¼º ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • dystrophic epidermolysis bullosa
    ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • calcification,dystrophic
    ÀÌ¿µ¾ç¼º (ì¶ç½å×àõ)
  • dystrophic calcinosis cutis
    ÀÌ¿µ¾ç¼º ÇǺΠĮ½·Áõ
  • epidermolysis
    Ç¥Çǹڸ®Áõ
  • epidermolysis acquisita<³ª>
    ÈÄõ¼º Ç¥Çǹڸ®Áõ
  • epidermolysis bullosa
    ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • epidermolysis bullosa
    ¼öÆ÷¼ºÇ¥ÇÇ ¹Ú¸®Áõ(â©øÞàõøúù«ÚÎ×îñø)
  • epidermolysis bullosa atrophicans
    À§Ã༺ ¼öÆ÷ Ç¥Çǹڸ®Áõ
  • epidermolysis bullosa hereditaria simplex<³ª>
    ´Ü¼ø¼±Ãµ¼º ¼öÆ÷ Ç¥Çǹڸ® Áõ
  • epidermolysis bullosa hereditaria<³ª>
    ¼±Ãµ¼º ¼öÆ÷ Ç¥Çǹڸ®Áõ
  • epidermolysis bullosa letalis
    Ä¡»ç¼º ¼öÆ÷ Ç¥Çǹڸ®Áõ
´ëÇÑÇØºÎÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 2 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Recessive autosomal gene
    ¿­¼ºº¸Åë¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿­¼º»ó¿°»öüÀ¯ÀüÀÚ
  • Recessive gonosomal gene
    ¿­¼º¼º¿°»öüÀ¯ÀüÀÚ
    [¿¾ ¿ë¾î] ¿­¼º¼º¿°»öüÀ¯ÀüÀÚ
´ëÇѱâ»ýÃæÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized paragonimiasis
    Àü½ÅÆóÈíÃæÁõ
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized gangliosidosis
    Àü½Å¼º(îïãóàõ) °»±Û¸®¿À»çÀ̵åÁõ(ñø)
  • generalized transduction
    º¸Åë ÇüÁúµµÀÔ(û¡òõ Óôìý)
  • recessive
    ¿­¼ºÇüÁú(Ö«àõû¡òõ)
  • recessive gene
    ¿­¼º À¯ÀüÀÚ(Ö«àõë¶îîí­)
  • recessive lethal gene
    ¿­¼º Ä¡»çÀ¯ÀüÀÚ(Ö«àõöÈÞÝë¶îîí­)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 2 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • generalized infection
    Àü½Å°¨¿°
  • recessive
    ¿­¼ºÀÇ
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
DEB diepoxybutane; diethylbutanediol; Division of Environmental Biology; dystrophic epidermolysis bullos...
DEBRA Dystrophic Epidermolysis Bulosa Research Association
EBA epidermolysis bullosa acquisita; epidermolysis bullosa atrophicans; orthoethoxybenzoic acid
DEBS dominant epidermolysis bullosa simplex
EAT Eating Attitudes Test; Ehrlich ascites tumor; electro-aerosol therapy; epidermolysis acuta toxica; e...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
RDEB Recessive dystrophic epidermolysis bullosa
DEB Dystrophic Epidermolysis Bullosa
AR Autosomal Recessive
AR-JP Autosomal recessive juvenile parkinsonism
ARPKD Autosomal recessive polycystic kidney disease
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • dystrophic epidermolysis bullosa
    ÀÌ¿µ¾ç¼º ¼öÆ÷¼º Ç¥Çǹڸ®Áõ
  • persistent generalized lymphadenopathy
    Áö¼ÓÀûÀÎ Àü½Å ¸²ÇÁÀýÁõ
  • dystrophic calcification
    ÀÌ¿µ¾ç¼º ¼®È¸È­
  • dystrophic calcinosis cutis
    ÀÌ¿µ¾ç¼º ÇǺΠĮ½·Áõ
  • dystrophic pulp calcification
    ÀÌ¿µ¾ç¼º Ä¡¼ö ¼®È¸È­
    ±«»ç Ä¡¼ö Á¶Á÷¿¡¼­ ¹ß»ýÇÏ´Â °ÍÀ¸·Î ´ë°³ ¹«Áõ»óÀÌ´Ù. ¿Ïº®ÇÑ Ä¡±Ù´Ü ¼ºÇü¼ú ½ÃÇà ÀÌÀü¿¡ µÐÇÑ ¿Ü»óÀ» ¹Þ´Â °æ¿ì ¿­·ÁÁ® ÀÖ´Â Ä¡±Ù´Ü¿¡ ÀÇÇÑ Ç÷·ù È®»ê°ú ±«»ç Á¶Á÷ÀÇ ¼®È¸È­·Î ÀÎÇØ ¹ß»ý °¡´ÉÇÏ´Ù. µ¿Åë, Ä¡±Ù´Ü ÁÖÀ§ÀÇ ¹æ»ç¼± Åõ°ú»ó ¶Ç´Â ´Ù¸¥ ¿°Áõ¼º Áõ»ó Á¸Àç ½Ã¿¡´Â Ä¡¾Æ ±Ù°üÄ¡·á°¡ ÇÊ¿äÇÏ´Ù. Ä¡¾ÆÀÇ °ËÀº º¯»ö À¯¹ß ½Ã¿¡´Â ½É¹Ì¼º ¼öº¹¹°ÀÌ ÇÊ¿äÇÏ´Ù.
  • organic dystrophic change
    ±âÁúÀû ÀÌ¿µ¾ç¼º À§Ãà º¯È­
  • progressive dystrophic ophthalmoplegia
    ÁøÇ༺ ÀÌ¿µ¾ç¼º ¾È±Ù ¸¶ºñ
  • epidermolysis acquisita
    ÈÄõ¼º Ç¥ÇÇ ¹Ú¸®Áõ, ÈÄõ¼º Ç¥ÇÇ ¼öÆ÷Áõ
  • epidermolysis bullosa acquisita
    ÈÄõ¼º Ç¥ÇÇ ¼öÆ÷Áõ, ÈÄõ¼º ¼öÆ÷¼º Ç¥ÇÇ ¹Ú¸®Áõ
    1. ¼öÆ÷¿Í ¼ÒÆ÷ÁøÀÇ ¹ß»ýÀ» Ư¡À¸·Î ÇÏ´Â À¯Àü¼º ÇǺκ´ ±º. 2. ¼º³â¿¡ ½ÃÀÛÇÏ¸ç ¿Ü»óÀ» ¹ÞÀº ºÎÀ§¿¡ À§Ã༺ ¹ÝÈçÀ» ³²±â´Â ¼öÆ÷°¡ »ý±ä´Ù. ¼Õ, ¹ß¿¡ Àß »ý±â¸ç µå¹°°Ô ±¸°­À» ħ¹üÇÑ´Ù. 3. ¸²ÇÁ Áõ½Ä¼º Áúȯ, Crohn º´, ±Ë¾ç¼º ´ëÀå¿°, ·ù¸¶Æ¼½º °üÀý¿°°ú µ¿¹ÝµÇ±âµµ ÇÑ´Ù. Ç¥ÇÇÇÏ ¼öÆ÷·Î ³ªÅ¸³ª¸ç ¿°Áõ ¼¼Æ÷ ħÀ±Àº ´ÜÇÙ±¸, Áß¼º±¸ ¿Ü¿¡ È£»ê±¸°¡ ÈçÈ÷ º¸ÀδÙ.
  • epidermolysis bullosa hereditaria
    ¼±Ãµ¼º ¼öÆ÷¼º Ç¥ÇÇ ¹Ú¸®Áõ
  • epidermolysis bullosa hereditaria simplex
    ´Ü¼ø ¼±Ãµ¼º ¼öÆ÷¼º Ç¥ÇÇ ¹Ú¸®Áõ
  • epidermolysis bullosa simplex
    ´Ü¼ø¼º ¼öÆ÷¼º Ç¥ÇÇ ¹Ú¸®Á¾
    »ó¿°»öü ¿ì¼º À¯ÀüÀ» ÇÏ¸ç ¼Õ, ¹ßÀ» À§½ÃÇÑ ÆÈ²ÞÄ¡, ¹«¸­ µîÀÇ °üÀýÀ̳ª ¹Ýº¹ÇÏ¿© ¿Ü»óÀ» ¹ÞÀº ºÎÀ§¿¡ Å©°í ÀÛÀº ¼öÆ÷°¡ ¹ß»ýÇϸç À§Ã༺ ¹ÝÈçÀ» ³²±âÁö ¾Ê´Â´Ù. º´¼Ò´Â º¸Åë »ýÈÄ 1³â À̳»¿¡ ½ÃÀÛÇÑ´Ù. ¹ß»ý ÃʱâÀÇ º´¼Ò¿¡¼­´Â ±âÀú ¼¼Æ÷ÀÇ °øÆ÷È­°¡ º¸À̰í ÀÌ¿¡ µû¶ó ÀÏÂ÷Àû ¹Ú¸®´Â ±âÀú¼¼Æ÷Ãþ »óºÎ ȤÀº ÀÌÀÇ º¯¼ºÀ¸·Î ÀÎÇÏ¿© Ç¥ÇÇ ÇϺο¡ ³ªÅ¸³­´Ù. PAS ¾ç¼ºÀÎ ±âÀú¸·Àº ¼öÆ÷ ¾Æ·¡ÀÇ ÁøÇÇ¿¡ ºÎÂøµÇ¾î ÀÖ´Ù.
  • junctional epidermolysis bullosa
    ¿¬Á¢ºÎ ¼öÆ÷¼º Ç¥ÇÇ ¹Ú¸®Áõ
  • autosomal recessive disorder
    »ó¿°»öü ¿­¼º Áúȯ
  • autosomal recessive ichthyosis
    »ó¿°»öü ¿­¼º ¾î¸°¼±
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
dystrophic Relating to dystrophy.
(05 Mar 2000)
dystrophic calcification Calcification occurring in degenerated or necrotic tissue, as in hyalinised scars, degenerated foci in leiomyomas, and caseous nodules.
(05 Mar 2000)
dystrophic calcinosis A deposit of calcium in the skin; usually occurs secondary to a preexisting inflammatory, degenerative, or neoplastic dermatosis, and is frequently seen in scleroderma.
Synonym: dystrophic calcinosis, skin stones.
(05 Mar 2000)
epidermolysis A condition in which the epidermis is loosely attached to the corium, readily exfoliating or forming blisters.
Origin: epidermis + G. Lysis, loosening
(05 Mar 2000)
epidermolysis bullosa This represents a group of rare inherited disorders in which blistering of the skin occurs in response to skin trauma. Large fluid-filled blisters can occur in response to injury, skin rubbing, chafing or even increases in room temperature. Secondary bacterial infection of the blisters is common. Complications include oesophageal stricture, infections, loss of function of hands and feet and malnutrition. The dermatologist is the expert in the evaluation and treatment of this disorder.
(27 Sep 1997)
epidermolysis bullosa acquisita Form of epidermolysis bullosa characterised by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IgG deposited at the dermo-epidermal junction.
(12 Dec 1998)
epidermolysis bullosa dystrophica Form of epidermolysis bullosa characterised by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms.
(12 Dec 1998)
epidermolysis bullosa, junctional Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterised by generalised blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
(12 Dec 1998)
epidermolysis bullosa lethalis Epidermolysis bullosa in which the bullae are persistent, nonhealing, and often present in the oral mucosa and trachea, but not on the palms and soles, leading to death.
Synonym: epidermolysis bullosa, junctional type, Herlitz syndrome.
(05 Mar 2000)
epidermolysis bullosa simplex This represents a group of rare inherited disorders in which blistering of the skin occurs in response to skin trauma. Large fluid-filled blisters can occur in response to injury, skin rubbing, chafing or even increases in room temperature. Secondary bacterial infection of the blisters is common. Complications include oesophageal stricture, infections, loss of function of hands and feet and malnutrition. The dermatologist is the expert in the evaluation and treatment of this disorder.
(27 Sep 1997)
autosomal recessive <genetics> Mutation carried on an autosome that is deleterious only in homozygotes.
(02 Jan 1998)
genes, recessive Genes that are reflected in the phenotype only in the homozygous state.
(12 Dec 1998)
recessive <genetics> An allele or mutation that is only expressed phenotypically when it is present in the homozygous form. In the heterozygote it is obscured by dominant alleles.
(18 Nov 1997)
recessive, autosomal A gene on a nonsex chromosome (an autosome) that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, cystic fibrosis (cf) is an autosomal recessive disorder. A cf child has the cf gene on both chromosome 7's (and so is said to be homozygous for cf).
(12 Dec 1998)
recessive character An inherited character determined by an allele in homozygous state only.
See: dominance of traits.
(05 Mar 2000)
ÇÑ¿µ/¿µÇÑ »çÀü À¯»ç °Ë»ö °á°ú : 4 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • recessive
    ¿ªÇàÇÏ´Â; ¼èÅðÇÏ´Â
  • recessive
    ÅðÇàÀÇ;¿ªÇàÇÏ´Â;¿­¼ºÀÇ;¿­¼º ÇüÁú;~ly;~ness
  • recessive accent
    ¿ªÇà ¾Ç¼¾Æ®
  • recessive gene
    ¿­¼º À¯ÀüÀÚ
ÀÌ ¾Æ·¡ ºÎÅÍ´Â °á°ú°¡ ¾ø½À´Ï´Ù.
KMLE ¾àǰ/ÀǾàǰ ¸ÂÃã °Ë»ö °á°ú : 0 ÆäÀÌÁö: 1
  • Á¦Ç°¸í
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