Novel homozygous variant in <i>WISP3</i> in a family with unrecognized progressive pseudorheumatoid dysplasia.

Patel, Chandreshkumar; Khanshour, Anas M; Wilkes, David; Rios, Jonathan J; Sheff, Kelly W; Nassi, Lorien; Wise, Carol A

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia.

Patel, Chandreshkumar; Khanshour, Anas M; Wilkes, David; Rios, Jonathan J; Sheff, Kelly W; Nassi, Lorien; Wise, Carol A.

Afiliação

Patel C; Scottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.
Khanshour AM; Scottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.
Wilkes D; Radiology Department Texas Scottish Rite Hospital for Children Dallas TX USA.
Rios JJ; Scottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.
Sheff KW; McDermott Center for Human Growth and Development University of Texas Southwestern Medical Center Dallas TX USA.
Nassi L; Department of Pediatrics University of Texas Southwestern Medical Center Dallas TX USA.
Wise CA; Orthopaedic Surgery University of Texas Southwestern Medical Center Dallas TX USA.

Clin Case Rep ; 8(8): 1452-1457, 2020 Aug.

Article em En | MEDLINE | ID: mdl-32884773

Palavras-chave

WISP3; juvenile idiopathic arthritis (JIA); progressive pseudorheumatoid dysplasia (PPD); rheumatoid arthritis; wholegenome sequencing (WGS)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article