Novel Inactivating Homozygous <i>PAPSS2</i> Mutation in Two Siblings With Disproportionate Short Stature.

Perez-Garcia, E Melissa; Whalen, Philip; Gurtunca, Nursen

Novel Inactivating Homozygous PAPSS2 Mutation in Two Siblings With Disproportionate Short Stature.

Perez-Garcia, E Melissa; Whalen, Philip; Gurtunca, Nursen.

Afiliação

Perez-Garcia EM; Division of Pediatric Endocrinology, University of South Alabama, Mobile, Alabama.
Whalen P; Section on Growth and Development, National Institute of Child Health and Development, NIH, Bethesda, Maryland.
Gurtunca N; Division of Pediatric Endocrinology and diabetes, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.

AACE Clin Case Rep ; 8(2): 89-92, 2022.

Article em En | MEDLINE | ID: mdl-35415222

Palavras-chave

DHEA; DHEA, dehydroepiandrosterone; DHEA-S; DHEA-S, dehydroepiandrosterone sulfate; PAPSS2; PAPSS2, 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 gene; PAPSS2, 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 protein; SS, short stature; disproportionate short stature; idiopathic short stature

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: AACE Clin Case Rep Ano de publicação: 2022 Tipo de documento: Article

Texto completo

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XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: AACE Clin Case Rep Ano de publicação: 2022 Tipo de documento: Article