American Journal of Medical Genetics · 1992 · 29 citations · 13 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPediatric GeneticsBiliary Tract DiseaseBiliary Tract DisordersCongenital AnomaliesGenetic DisordersLiver DiseaseMosaicismCongenital Biliary AtresiaExtrahepatic CholestasisGenetic Cholestatic DisordersGermline MosaicismInherited Cholestatic DisordersRecurrence
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.
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Germline mosaicism and Duchenne muscular dystrophy mutations
Egbert Bakker, Christine Van Broeckhoven, E. J. Bonten et al. · Nature · 1987 · 203 citations
D Alagille · Hepatology · 1984 · 132 citations · Full text
Medicine, Pediatrics, Surgery +15
N Harlaftis, STEPHEN W. GRAY, John E. Skandalakis · PubMed · 1977 · 127 citations