The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine,Neurology (clinical),Radiology, Nuclear Medicine and imaging
Link
https://link.springer.com/content/pdf/10.1007/s00234-023-03118-9.pdf
Reference47 articles.
1. Hall BD (1979) Choanal atresia and associated multiple anomalies. J Pediatr 95:395–398. https://doi.org/10.1016/s0022-3476(79)80513-2
2. Blake KD, Prasad C (2006) CHARGE syndrome. Orphanet J Rare Dis 1:34. https://doi.org/10.1186/1750-1172-1-34
3. Jongmans MCJ, Admiraal RJ, van der Donk KP, Vissers LELM, Baas AF, Kapusta L et al (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 43:306–314. https://doi.org/10.1136/jmg.2005.036061
4. Bergman JEH, Janssen N, Hoefsloot LH, Jongmans MCJ, Hofstra RMW, van Ravenswaaij-Arts CMA (2011) CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 48:334–342. https://doi.org/10.1136/jmg.2010.087106
5. Verloes A (2005) Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A 133A:306–308. https://doi.org/10.1002/ajmg.a.30559
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