ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac features.

Spencer, Careni; Comitis, George; Lawrenson, John; Fieggen, Karen

Spencer, Careni; Comitis, George; Lawrenson, John; Fieggen, Karen.

Afiliação

Spencer C; Department of Medicine, Division of Human Genetics, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa.
Comitis G; Department of Paediatrics, Division of Paediatric Cardiology, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Lawrenson J; Department of Paediatrics and Child Health, Stellenbosch University, Stellenbosch, South Africa.
Fieggen K; Department of Medicine, Division of Human Genetics, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa.

Am J Med Genet A ; 191(6): 1652-1655, 2023 06.

Article em En | MEDLINE | ID: mdl-36949638

Assuntos

Anormalidades do Olho; Cardiopatias Congênitas; Masculino; Humanos; Cardiopatias Congênitas/diagnóstico; Cardiopatias Congênitas/genética; Coração; Aorta; África Subsaariana

Palavras-chave

ABL1; congenital heart defects and skeletal malformations syndrome; connective tissue disorders

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Cardiopatias Congênitas Tipo de estudo: Diagnostic_studies Limite: Humans / Male País/Região como assunto: Africa Idioma: En Revista: Am J Med Genet A Ano de publicação: 2023 Tipo de documento: Article

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