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

Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.

Clinical genetics - 1 Jun 2024

Michelson Marina, Yosovich Keren, Bahar Sarit, Yogev Yuval, Birk Ohad S, Ginzberg Mira, Lev Dorit

Abstract excerpt

The biallelic variants of the POP1 gene are associated with the anauxetic dysplasia (AAD OMIM 607095), a rare skeletal dysplasia, characterized by prenatal rhizomelic shortening of limbs and generalized joint hypermobility. Affected individuals usually have normal neurodevelopmental milestones. Here we present three cases from the same family with likely pathogenic homozygous POP1 variant and a completely novel...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Genetic Predisposition to Disease

Share to Homozygote

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 38351533
DOI: 10.1111/cge.14502

Genes

POP1

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

Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.PMID 38351533Read ↗

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.Semantic proximity Read ↗

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.Semantic proximity Read ↗

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.Semantic proximity Read ↗

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.Semantic proximity Read ↗

First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.Semantic proximity Read ↗

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.Semantic proximity Read ↗

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

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.Semantic proximity Read ↗

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.Semantic proximity Read ↗

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.Semantic proximity Read ↗

Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.Semantic proximity Read ↗

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