Waardenburg syndrome: Novel mutations in a large Brazilian sample-Reference-Cited by-同舟云学术

Waardenburg syndrome: Novel mutations in a large Brazilian sample

Published:2018-06 Issue:6 Volume:61 Page:348-354
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bocángel Magnolia Astrid Pretell,Melo Uirá Souto,Alves Leandro Ucela^ORCID,Pardono Eliete,Lourenço Naila Cristina Vilaça^ORCID,Marcolino Humberto Vicente Cezar,Otto Paulo Alberto,Mingroni-Netto Regina Célia

Funder

FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo)

CNPq (Conselho Nacional de Desenvolvimento Científico e Tecnológico)

CAPES (Coordenação de Aperfeiçoamento Profissional de Nível Superior)

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference36 articles.

1. Apparent non-penetrance for dystopia in waardenburg syndrome type i, with some hints on the diagnosis of dystopia canthorum;Arias;J. Genet. Hum.,1978

2. Mutation of the endothelin receptor b gene in waardenburg-hirschsprung disease;Attié;Hum. Mol. Genet.,1995

3. Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2;Baral;PLoS One,2012

4. Microphthalmia gene product as a signal transducer in cAMP-induced differentiation of melanocytes;Bertolotto;J. Cell Biol.,1998

5. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am. J. Hum. Genet.,2007

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