Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?

Sabir, Ataf H; Singhal, Juhi; Man, Jessica; Cooper, Nicola; Cheung, Moira; Irving, Melita

Sabir, Ataf H; Singhal, Juhi; Man, Jessica; Cooper, Nicola; Cheung, Moira; Irving, Melita.

Afiliación

Sabir AH; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London.
Singhal J; Institute of Cancer and Genomic Sciences, University of Birmingham.
Man J; Department of Clinical Genetics, Lavender House, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham.
Cooper N; Department of Medicine, West Hertfordshire Hospitals NHS Trust, Hertfordshire.
Cheung M; Institute of Cancer and Genomic Sciences, University of Birmingham.
Irving M; Institute of Cancer and Genomic Sciences, University of Birmingham.

Clin Dysmorphol ; 31(2): 84-90, 2022 Apr 01.

Article en En | MEDLINE | ID: mdl-35045016

Asunto(s)

Exostosis Múltiple Hereditaria; Humanos; Mutación; N-Acetilglucosaminiltransferasas/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Exostosis Múltiple Hereditaria Límite: Humans Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido

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