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

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

American journal of medical genetics. Part A - 1 Nov 2011

Ben-Neriah Ziva, Michaelson-Cohen Rachel, Inbar-Feigenberg Michal, Nadjari Michael, Zeligson Sharon, Shaag Avraham, Zenvirt Shamir, Elpeleg Orly, Levy-Lahad Ephrat

Abstract excerpt

Diaphonospondylodysostosis (DSD) is a rare, recessively inherited, lethal skeletal dysplasia, characterized by severe spinal ossification, segmentation defects, and renal cystic dysplasia with nephrogenic rests. We hereby present three affected individuals: two children and a fetus from two unrelated East Jerusalem Arab-Muslim families. Whereas most fetuses die in utero or perinatally, one of the children...

Topics

Join the communities discussing this publication.

Arabs
Carrier Proteins
Chromosomes, Human, Pair 17
Founder Effect
Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy Trimester, Second

Source

Identifiers

PMID: 21990102
DOI: 10.1002/ajmg.a.34240

Genes

BMPER

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).PMID 21990102Read ↗

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

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.Semantic proximity Read ↗

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

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.Semantic proximity Read ↗

Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.Semantic proximity Read ↗

Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.Semantic proximity Read ↗

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.Semantic proximity Read ↗

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.Semantic proximity Read ↗

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.Semantic proximity Read ↗

Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.Semantic proximity Read ↗

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.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 ↗

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