A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of theTFAP2Agene
Author:
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2011.634878
Reference17 articles.
1. New autosomal dominant branchio-oculo-facial syndrome
2. A complexTFAP2Aallele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child
3. Confirmation ofTFAP2Agene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies
4. Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome
5. Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
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