A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease.

Gabaton, Niña; Kannu, Peter; Pope, Elena; Shugar, Andrea; Lara-Corrales, Irene

Gabaton, Niña; Kannu, Peter; Pope, Elena; Shugar, Andrea; Lara-Corrales, Irene.

Afiliação

Gabaton N; Section of Dermatology, Division of Paediatric Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Kannu P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Pope E; Section of Dermatology, Division of Paediatric Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Shugar A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Lara-Corrales I; Section of Dermatology, Division of Paediatric Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Pediatr Dermatol ; 37(5): 868-871, 2020 Sep.

Article em En | MEDLINE | ID: mdl-32598042

Assuntos

Hipopigmentação; Ceratodermia Palmar e Plantar; Diester Fosfórico Hidrolases; Pirofosfatases; Pré-Escolar; Humanos; Masculino; Mutação; Linhagem

Palavras-chave

Cole disease; ENPP1 mutation; genodermatosis

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pirofosfatases / Hipopigmentação / Ceratodermia Palmar e Plantar / Diester Fosfórico Hidrolases Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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