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

• Main Authors: Johnston Jennifer J (Author), Ng David (Author), Schneider Adele S (Author), Bardakjian Tanya M (Author), Biesecker Leslie G (Author)
• Format: Book
• Published: BMC, 2009-12-01T00:00:00Z.
• Subjects: article
• Online Access: 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...