RECURRENCE OF EXTRAHEPATIC BILIARY ATRESIA IN 2 HALF SIBS
RECURRENCE OF EXTRAHEPATIC BILIARY ATRESIA IN 2 HALF SIBS
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DOI：
10.1002/ajmg.1320430317
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发表时间：
1992-06-01
期刊：
影响因子：
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通讯作者：
YONG, SL
中科院分区：
文献类型：
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作者：
GUNASEKARAN, TS;HASSALL, EG;YONG, SL
肝外胆道闭锁(EHBA)通常是一种散发性疾病。已报告家族性病例，包括发生在兄弟姐妹和双胞胎中。我们报告了首次在两个同父异母的兄弟姐妹中复发的EHBA，并提出了性腺嵌合体导致新的显性突变的可能性。
Extrahepatic biliary atresia (EHBA) usually is a sporadic disorder. Familial cases, including occurrence in sibs and twins, have been reported. We report the first recurrence of EHBA in two half sibs born to a common father and unrelated mothers and suggest the possibility of gonadal mosaicism for a new dominant mutation.