Association of a <it>de novo </it>16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes
<p>Abstract</p> <p>Background</p> <p>Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks...
Main Authors: | Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G |
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Format: | Article |
Language: | English |
Published: |
BMC
2009-12-01
|
Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/10/137 |
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