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Article

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

American journal of human genetics - 1 Oct 2015

Faden Maha, AlZahrani Fatema, Mendoza-Londono Roberto, Dupuis Lucie, Hartley Taila, Kannu Peter, Raiman Julian A, Howard Andrew, Qin Wen, Tetreault Martine, Xi Joan Qiongchao, Al-Thamer Imadeddin, Maas Richard L, Boycott Kym, Alkuraya Fowzan S

Abstract excerpt

Skeletal dysplasias are highly variable Mendelian phenotypes. Molecular diagnosis of skeletal dysplasias is complicated by their extreme clinical and genetic heterogeneity. We describe a clinically recognizable autosomal-recessive disorder in four affected siblings from a consanguineous Saudi family, comprising progressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth...

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Source

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Identifiers

PMID: 26365341
DOI: 10.1016/j.ajhg.2015.08.007
PMCID: PMC4596891

Genes

RSPRY1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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