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Recurrence of extrahepatic biliary atresia in two half sibs

✍ Scribed by Gunasekaran, Thirumazhisai S. ;Hassall, Eric G. ;Steinbrecher, Urs P. ;Yong, Siu-Li


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
319 KB
Volume
43
Category
Article
ISSN
0148-7299

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## Abstract Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in __NIPBL__ have been found in ∼50% of individuals with CdLS. Numerous chro