Association of a <it>de novo </it>16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

• Prif Awduron: Johnston Jennifer J (Awdur), Ng David (Awdur), Schneider Adele S (Awdur), Bardakjian Tanya M (Awdur), Biesecker Leslie G (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2009-12-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

<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...