Heimler Syndrome
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-030-60204-8_7
Reference27 articles.
1. Heimler A, Fox JE, Hershey JE, Crespi P (1991) Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. Am J Med Genet 39:192–195
2. Acharya BS, Ritwik P, Velasquez GM, Fenton SJ (2012) Medical-dental findings and management of a child with infantile Refsum disease: a case report: infantile refsum disease-dental management. Spec Care Dentist 32:112–117
3. Zaki MS, Heller R, Thoenes M, Nürnberg G, Stern-Schneider G, Nürnberg P, Karnati S, Swan D, Fateen E, Nagel-Wolfrum K et al (2016) PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly: human mutation. Hum Mutat 37:170–174
4. Dure-Molla M, Fournier BP, Manzanares MC, Acevedo AC, Hennekam RC, Friedlander L, Boy-Lefèvre M, Kerner S, Toupenay S, Garrec P et al (2019) Elements of morphology: standard terminology for the teeth and classifying genetic dental disorders. Am J Med Genet A 179:1913–1981
5. Ong KR, Visram S, McKaig S, Brueton LA (2006) Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls. Eur J Med Genet 49:187–193
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