Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.

American journal of medical genetics. Part A - 1 Aug 2024

Singh Swati, Shah Hitesh, Dalal Ashwin, Shukla Anju, Bhavani Gandham SriLakshmi, Girisha Katta M

Abstract excerpt

Biallelic variants in RSPRY1 have been found to result in spondyloepimetaphyseal dysplasia. Two siblings presenting with short stature, facial dysmorphism, progressive vertebral defects, small epiphysis, cupping and fraying of metaphyses, brachydactyly, and short metatarsals harbored a homozygous missense variant c.1652G>A;p.(Cys551Tyr) in the RSPRY1 gene. The phenotype in our patients resembles...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to DNA-Binding Proteins
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Osteochondrodysplasias

Share to Pedigree

Share to Phenotype

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 38562122
DOI: 10.1002/ajmg.a.63601
PMCID: PMC7616131

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.PMID 38562122Read ↗

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.Semantic proximity Read ↗

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.Semantic proximity Read ↗

A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.Semantic proximity Read ↗

RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.Semantic proximity Read ↗

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.Semantic proximity Read ↗

Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.Semantic proximity Read ↗

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.Semantic proximity Read ↗

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.Semantic proximity Read ↗

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.Semantic proximity Read ↗

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.Semantic proximity Read ↗

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?Semantic proximity Read ↗

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.