Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.

Tzen, Elyn Y-L; Lim, Jiin Yin; Cheah, Sue Mei; Choo, Jonathan T L; Kam, Sylvia; Ng, Zhi Min; Thomas, Biju; Jamuar, Saumya; Koh, Ai Ling; Tan, Ene-Choo

Tzen, Elyn Y-L; Lim, Jiin Yin; Cheah, Sue Mei; Choo, Jonathan T L; Kam, Sylvia; Ng, Zhi Min; Thomas, Biju; Jamuar, Saumya; Koh, Ai Ling; Tan, Ene-Choo.

Afiliação

Tzen EY; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
Lim JY; Genetics Service, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.
Cheah SM; Complex Care Service, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.
Choo JTL; Cardiology Service, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.
Kam S; Genetics Service, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.
Ng ZM; Neurology Service, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.
Thomas B; Respiratory Service, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.
Jamuar S; Genetics Service, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.
Koh AL; Genetics Service, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.
Tan EC; KK Research Centre, KK Womenâ§s and Childrenâ§s Hospital, Singapore, Singapore.

Mol Syndromol ; 14(1): 21-29, 2023 Feb.

Article em En | MEDLINE | ID: mdl-36777711

Palavras-chave

Cardiofaciocutaneous syndrome; Clinical heterogeneity; Costello syndrome; Dysmorphic features; MAP2K1

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Syndromol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Singapura

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