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

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.

American journal of medical genetics. Part A - 1 Dec 2022

Reeves Ashley, Ojha Kanwal, Meddaugh Hannah, Zambrano Regina M

Abstract excerpt

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) Syndrome is a syndrome recently identified among three German patients. Clinical characteristics include eye disease, sensorineural hearing loss, distinct facial and phalangeal features, short stature, developmental delay, and cerebellar atrophy. In this case report, we discuss a fourth identified patient with genomic mutations in...

Read the complete abstract on PubMed

Topics

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

Share to Deafness
Share to Dwarfism
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Mutation

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Syndrome

Source

Identifiers

PMID: 36069504
DOI: 10.1002/ajmg.a.62964

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

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.PMID 36069504Read ↗

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.Semantic proximity Read ↗

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.Semantic proximity Read ↗

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.Semantic proximity Read ↗

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

Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations.Semantic proximity Read ↗

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.Semantic proximity Read ↗

Natural history of KBG syndrome in a large European cohort.Semantic proximity Read ↗

Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant.Semantic proximity Read ↗

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.Semantic proximity Read ↗

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.Semantic proximity Read ↗

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.Semantic proximity Read ↗

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.Semantic proximity Read ↗

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