CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
Jongmans MC, et al.
J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9.
J Med Genet. 2006.
PMID: 16155193
Free PMC article.
A consistent feature in CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Other commonly associated congenital anomalies are facial nerve palsy, cleft lip/palate, and tracheo-oesophageal fistula. ...METHODS: The coding regions of CH …
A consistent feature in CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Other commonly ass …