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

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.

American journal of medical genetics. Part A - 1 Mar 2021

Gileta Alexander F, Helgeson Maria L, Leonard Jacqueline M M, Pyle Louise C, Subramanian Hari P, Arndt Kelly, Hawkes Colin P, Del Gaudio Daniela

Abstract excerpt

The semaphorin protein family is a diverse set of extracellular signaling proteins that perform fundamental roles in the development and operation of numerous biological systems, notably the nervous, musculoskeletal, cardiovascular, endocrine, and reproductive systems. Recently, recessive loss-of-function (LoF) variants in SEMA3A (semaphorin 3A) have been shown to result in a recognizable syndrome characterized...

Read the complete abstract on PubMed

Topics

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

Share to Clubfoot
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypogonadism

Share to Kallmann Syndrome

Share to Loss of Function Mutation

Share to Muscle Hypotonia

Share to Puberty, Delayed

Share to Scoliosis

Source

Open in PubMed Open full text

Identifiers

PMID: 33369061
DOI: 10.1002/ajmg.a.62023
PMCID: PMC10258807

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

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.PMID 33369061Read ↗

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.Semantic proximity Read ↗

Biallelic SEMA3A defects cause a novel type of syndromic short stature.Semantic proximity Read ↗

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.Semantic proximity Read ↗

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.Semantic proximity Read ↗

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.Semantic proximity Read ↗

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.Semantic proximity Read ↗

Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management - Case Reports and Literature ReviewSemantic proximity Read ↗

New developments in the genetic diagnosis of short stature.Semantic proximity Read ↗

Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW StudySemantic proximity Read ↗

ACMG practice guideline: genetic evaluation of short stature.Semantic proximity Read ↗

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.Semantic proximity Read ↗

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.Semantic proximity Read ↗

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