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Journal article

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Abstract:

Exome sequence analysis of affected individuals from two families with autosomal-dominant inheritance of coloboma identified two different cosegregating heterozygous nonsense mutations (c.370C>T [p.Arg124*] and c. 1066G>T [p.Glu356*]) in YAP1. The phenotypes of the affected families differed in that one included no extraocular features and the other manifested with highly variable multisystem involvement, including hearing loss, intellectual disability, hematuria, and orofacial clefting...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2014.01.001

Authors


Williamson, KA More by this author
Rainger, J More by this author
Meynert, A More by this author
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Journal:
American journal of human genetics
Volume:
94
Issue:
2
Pages:
295-302
Publication date:
2014-02-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:8149a917-2f36-41fe-a950-9d6a76743386
Source identifiers:
447734
Local pid:
pubs:447734

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