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Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization

Abstract:

Carpenter syndrome is an autosomal-recessive multiple-congenital- malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, encoding a small GTPase that regulates vesicular transport, are present in the majority of cases. Here, we describe a disorder caused by mutations in multiple epi...

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Publisher copy:
10.1016/j.ajhg.2012.08.027

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Journal:
American Journal of Human Genetics
Volume:
91
Issue:
5
Pages:
897-905
Publication date:
2012-11-02
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:bf288cba-b1b7-4e14-9844-690119517a1e
Source identifiers:
364396
Local pid:
pubs:364396
Language:
English

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