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

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

19 Dec 2018

Abstract excerpt

Stickler syndrome is a genetic disorder that can lead to joint problems, hearing difficulties and retinal detachment. Genes encoding collagen types II, IX and XI are usually responsible, but some families have no causal variant identified. We investigate a variant in the gene encoding growth factor BMP4 in a family with Stickler syndrome with associated renal dysplasia. Next generation sequencing of the coding...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Dental Protein Studies
Share to Craniofacial Disorders and Treatments
Share to Ocular Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30568244
DOI: 10.1038/s41431-018-0316-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasiaPMID 30568244Read ↗

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.Semantic proximity Read ↗

The clinical spectrum of type IV collagen mutations.Semantic proximity Read ↗

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.Semantic proximity Read ↗

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.Semantic proximity Read ↗

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.Semantic proximity Read ↗

Involvement of the bone morphogenic protein/SMAD signaling pathway in the etiology of congenital anomalies of the kidney and urinary tract accompanied by cryptorchidism.Semantic proximity Read ↗

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.Semantic proximity Read ↗

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.Semantic proximity Read ↗

Clinical and molecular genetics of Stickler syndromeSemantic proximity Read ↗

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.Semantic proximity Read ↗

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.Semantic proximity Read ↗

High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.Semantic proximity Read ↗

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