Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.

Kirola, Laxmi; Edgar-Zarate, Courtney L; Rook, Brita; Rowell, Amy C; Wood, Tim; Uchimura, Kenji; Schwartz, Charles E; Zarate, Yuri A

Kirola, Laxmi; Edgar-Zarate, Courtney L; Rook, Brita; Rowell, Amy C; Wood, Tim; Uchimura, Kenji; Schwartz, Charles E; Zarate, Yuri A.

Afiliação

Kirola L; Greenwood Genetic Center, Greenwood, South Carolina.
Edgar-Zarate CL; Department of Pediatrics.
Rook B; Department of Ophthalmology.
Rowell AC; Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Wood T; Greenwood Genetic Center, Greenwood, South Carolina.
Uchimura K; Unité de Glycobiologie Structurale et Fonctionnelle, UMR 8576 CNRS, Université de Lille, Villeneuve d'Ascq, France.
Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina.
Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

Clin Dysmorphol ; 29(3): 144-147, 2020 Jul.

Article em En | MEDLINE | ID: mdl-31895056

Assuntos

Insuficiência de Crescimento/genética; Sulfatases/genética; Insuficiência de Crescimento/fisiopatologia; Humanos; Lactente; Masculino; Sulfatases/metabolismo; Sulfotransferases/genética; Sulfotransferases/metabolismo

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sulfatases / Insuficiência de Crescimento Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google