A novelTFAP2Amutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

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

A Case of Branchio-oculo-facial Syndrome

(2010) Min Young Park et al.   Annals of Dermatology

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

Lesser Forms of Cleft Lip Associated With the Branchio-Oculo-Facial Syndrome

(2009) Angela E. Lin et al.   JOURNAL OF CRANIOFACIAL SURGERY

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

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