Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.

Pelgrims, Elise; Lynch, Sally Ann; Hannes, Laurens; Hoffer, Mariëtte J V; Melotte, Cindy; Van Haeringen, Arie; Swillen, Ann; Breckpot, Jeroen

Pelgrims, Elise; Lynch, Sally Ann; Hannes, Laurens; Hoffer, Mariëtte J V; Melotte, Cindy; Van Haeringen, Arie; Swillen, Ann; Breckpot, Jeroen.

Afiliação

Pelgrims E; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.
Lynch SA; Department of Clinical Genetics, Children's University Hospital, Dublin, Republic of Ireland.
Hannes L; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.
Hoffer MJV; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Melotte C; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Van Haeringen A; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Swillen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Breckpot J; Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

Am J Med Genet A ; 191(7): 1889-1899, 2023 07.

Article em En | MEDLINE | ID: mdl-37129290

Assuntos

Deficiências do Desenvolvimento; Deficiência Intelectual; Criança; Humanos; Cromossomos Humanos Par 3; Deficiências do Desenvolvimento/genética; Face; Deficiência Intelectual/genética; Fenótipo; Receptores de GABA-A/genética; Síndrome

Palavras-chave

1p36.3; GABRD; SKI; neurodevelopmental disorders; triplication

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Child / Humans Idioma: En Revista: Am J Med Genet A Ano de publicação: 2023 Tipo de documento: Article

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