1 hasil untuk "David Fitzpatrick"

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Ryan Chao; Linda Nevin; Pooja Agarwal dkk.

PLoS ONE, Vol. 5 No. 5 · 2010 · Inggris · PLOS Scopus

Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his mother. In-situ hybridization showed that one…