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

Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.

Clinical dysmorphology - 1 Jan 2017

Tadros Shereen, Scott Richard H, Calder Alistair D, Hurst Jane A

Abstract excerpt

We report on two siblings of Iraqi descent with clinical and radiographic features of metaphyseal dysplasia, Spahr type (MDST), born to consanguineous unaffected parents. Molecular testing confirmed pathogenic mutations in MMP13. We review the considerable overlap between MDST and other related disorders. These cases confirm the phenotypic variability and regressive nature of MDST in addition to suggesting bone...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Bones
Share to Consanguinity
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Matrix Metalloproteinase 13

Share to Osteochondrodysplasias

Share to Radiography

Share to Siblings

Source

Identifiers

PMID: 27576021
DOI: 10.1097/MCD.0000000000000151

Genes

MMP13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.PMID 27576021Read ↗

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.Semantic proximity Read ↗

MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a family.Semantic proximity Read ↗

Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.Semantic proximity Read ↗

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal AnadysplasiaSemantic proximity Read ↗

The second family with Spahr-type metaphyseal chondrodysplasia: autosomal recessive inheritance confirmed.Semantic proximity Read ↗

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).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 ↗

Skeletal dysplasias detectable by DNA analysis.Semantic proximity Read ↗

Prenatal diagnosis and postnatal outcome of severe tetra-phocomelia associated with Pierre Robin sequence in a low-resource setting: a case report from Burkina FasoSemantic proximity Read ↗

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.Semantic proximity Read ↗

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.Semantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literatureSemantic proximity Read ↗

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