A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings.

Neerinckx, Barbara; Thues, Cedric; Wouters, Carine; Lechner, Sarah; Westhovens, Rene; Van Esch, Hilde.

Afiliação

Neerinckx B; Skeletal Biology and Engineering Research Center, Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Rheumatology, University Hospitals Leuven, Leuven, Belgium.
Thues C; Center for Human Genetics, University Hospitals Leuven , Leuven, Belgium.
Wouters C; Pediatric Rheumatology, University Hospitals Leuven , Leuven, Belgium.
Lechner S; CeGaT GmbH, Center for Genomics and Transcriptomics , Tübingen, Germany.
Westhovens R; Skeletal Biology and Engineering Research Center, Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Rheumatology, University Hospitals Leuven, Leuven, Belgium.
Van Esch H; Center for Human Genetics, University Hospitals Leuven , Leuven, Belgium.

Hum Genome Var ; 2: 15049, 2015.

Article em En | MEDLINE | ID: mdl-27081554

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2015 Tipo de documento: Article