Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11
Author:
Publisher
Elsevier BV
Subject
Anatomy
Reference17 articles.
1. Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports;Law;J Med Genet,1998
2. Axenfeld–Rieger malformation and distinctive facial features: clues to a recognizable 6p25 micro- deletion syndrome;Maclean;Am J Med Genet Part A,2005
3. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations;Tümer;Eur J Hum Genet.,2009
4. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld–Rieger anomaly;Mears;Am J Hum Genet,1998
5. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25;Nishimura;Nat Genet,1998
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