A homozygous mutation in a consanguineous family consolidates the role ofALDH1A3in autosomal recessive microphthalmia

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

(2013) Lucas Fares-Taie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

(2013) Fatema Zahrani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing identified a homozygousFNBP4mutation in a family with a condition similar to microphthalmia with limb anomalies

(2013) Yukiko Kondo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations inALDH1A3cause microphthalmia

(2013) M A Aldahmesh et al.   CLINICAL GENETICS

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

(2013) Mani Yahyavi et al.   HUMAN MOLECULAR GENETICS

Mutation analysis of theSTRA6gene in isolated and non-isolated anophthalmia/microphthalmia

(2012) N Chassaing et al.   CLINICAL GENETICS

Retinoic acid signalling during development

(2012) M. Rhinn et al.   DEVELOPMENT

Homozygous null mutation in ODZ3 causes microphthalmia in humans

(2012) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

Anophthalmos, Microphthalmos, and Coloboma in the United Kingdom: Clinical Features, Results of Investigations, and Early Management

(2011) Shaheen P. Shah et al.   OPHTHALMOLOGY

Features and development ofCoot

(2010) P. Emsley et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Keeping an eye on retinoic acid signaling during eye development

(2008) Gregg Duester   CHEMICO-BIOLOGICAL INTERACTIONS