Hydrocephaly associated with compound heterozygous alterations in TRAPPC12.

Gass, Jennifer M; Head, Barbara B; Shields, Sally M; Stevenson, Roger E; Louie, Raymond J

Gass, Jennifer M; Head, Barbara B; Shields, Sally M; Stevenson, Roger E; Louie, Raymond J.

Afiliação

Gass JM; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.
Head BB; Maternal-Fetal Medicine Division, Department of Obstetrics and Gynecology, Medical University of South Carolina, Charleston, South Carolina, USA.
Shields SM; Maternal-Fetal Medicine Division, Department of Obstetrics and Gynecology, Medical University of South Carolina, Charleston, South Carolina, USA.
Stevenson RE; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.
Louie RJ; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.

Birth Defects Res ; 112(13): 1028-1034, 2020 08.

Article em En | MEDLINE | ID: mdl-32347653

Assuntos

Hidrocefalia; Feminino; Feto; Heterozigoto; Humanos; Hidrocefalia/genética; Mutação; Gravidez; Sequenciamento do Exoma

Palavras-chave

TRAPPC12; autosomal recessive; hydrocephaly; malformation; prenatal diagnosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidrocefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Birth Defects Res Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

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