Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.

Thomas, Elizabeth; Lewis, Andrea M; Yang, Yaping; Chanprasert, Sirisak; Potocki, Lorraine; Scott, Daryl A

Thomas, Elizabeth; Lewis, Andrea M; Yang, Yaping; Chanprasert, Sirisak; Potocki, Lorraine; Scott, Daryl A.

Afiliação

Thomas E; Texas A&M University at Galveston, Galveston, Texas, United States.
Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
Yang Y; Texas Children's Hospital, Houston, Texas, United States.
Chanprasert S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
Potocki L; Department of Medicine, University of Washington, Seattle, Washington, United States.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

J Pediatr Genet ; 8(4): 244-251, 2019 Dec.

Article em En | MEDLINE | ID: mdl-31687266

Palavras-chave

ADAT3; augmentative and alternative communication devices; congenital diaphragmatic hernia; mental retardation autosomal recessive 36; syndromic intellectual disability

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2019 Tipo de documento: Article