Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.

Lin, Grace; Wei, Heming; Lai, Angeline H M; Tan, Ee-Shien; Lim, Jiin Ying; Cham, Breana; Ling, Simon; Jamuar, Saumya S; Tan, Ene-Choo

Lin, Grace; Wei, Heming; Lai, Angeline H M; Tan, Ee-Shien; Lim, Jiin Ying; Cham, Breana; Ling, Simon; Jamuar, Saumya S; Tan, Ene-Choo.

Afiliación

Lin G; Research Laboratory, KK Women's and Children's Hospital, Singapore.
Wei H; Research Laboratory, KK Women's and Children's Hospital, Singapore.
Lai AHM; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore.
Tan ES; SingHealth Duke-NUS Paediatrics Academic Programme, Singapore.
Lim JY; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore.
Cham B; SingHealth Duke-NUS Paediatrics Academic Programme, Singapore.
Ling S; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore.
Jamuar SS; Department of Pediatrics, Genetics Service, KK Women's and Children's Hospital, Singapore.
Tan EC; SingHealth Duke-NUS Paediatrics Academic Programme, Singapore.

J Pediatr Genet ; 12(2): 135-140, 2023 Jun.

Article en En | MEDLINE | ID: mdl-37090834

Palabras clave

Lisch nodules; NF1 variants; café-au-lait spots; neurofibromatosis type 1; optic pathway glioma

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: J Pediatr Genet Año: 2023 Tipo del documento: Article País de afiliación: Singapur

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