A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of theTFAP2Agene

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

(2010) Jeff M. Milunsky et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome

(2010) Judith Reiber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis

(2010) Erin A. Bassett et al.   HUMAN MOLECULAR GENETICS

A complexTFAP2Aallele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

(2009) Mustafa Tekin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Confirmation ofTFAP2Agene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies

(2009) C. Stoetzel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

(2009) Gaia Gestri et al.   HUMAN GENETICS

Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure

(2009) J. D. Brown et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

(2008) Jeff M. Milunsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression

(2008) Rachna Sehgal et al.   DEVELOPMENTAL BIOLOGY