Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Hale, Caitlin L; Niederriter, Adrienne N; Green, Glenn E; Martin, Donna M

Hale, Caitlin L; Niederriter, Adrienne N; Green, Glenn E; Martin, Donna M.

Afiliación

Hale CL; Department of Pediatrics, Stanford University, Stanford, California.
Niederriter AN; Medical Scientist Training Program, The University of Michigan Medical School, Ann Arbor, Michigan.
Green GE; Department of Otolaryngology, The University of Michigan Medical School, Ann Arbor, Michigan.
Martin DM; Medical Scientist Training Program, The University of Michigan Medical School, Ann Arbor, Michigan.

Am J Med Genet A ; 170(12): 3367-3368, 2016 Dec.

Article en En | MEDLINE | ID: mdl-26996150

Asunto(s)

Síndrome CHARGE/genética; ADN Helicasas/genética; Proteínas de Unión al ADN/genética; Síndrome CHARGE/diagnóstico; Fenotipo

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ADN Helicasas / Proteínas de Unión al ADN / Síndrome CHARGE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article

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