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

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

American journal of medical genetics. Part A - 1 Mar 2025

Nishi Eriko, Yanagi Kumiko, Okamoto Nobuhiko, Kaname Tadashi

Abstract excerpt

Radio-Tartaglia syndrome (RATARS) (MIM#619312) is a genetic disorder caused by heterozygous truncating variants of SPEN on chromosome 1p36. This syndrome is extremely rare, with only 34 cases reported to date. RATARS is characterized by developmental delay, hypotonia, and intellectual disability. In this study, we report a Japanese girl with psychomotor delay, hypotonia, and facial features resembling Down...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 1
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Exome Sequencing

Share to Infant, Newborn

Share to Intellectual Disability

Share to Muscle Hypotonia

Source

Identifiers

PMID: 39431794
DOI: 10.1002/ajmg.a.63910

Genes

SPEN

Variants

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

Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant.PMID 39431794Read ↗

Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.Semantic proximity Read ↗

Clinical and Genetic Findings in Two Japanese Individuals With SET-Related Neurodevelopmental Disorder.Semantic proximity Read ↗

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.Semantic proximity Read ↗

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

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.Semantic proximity Read ↗

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.Semantic proximity Read ↗

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.Semantic proximity Read ↗

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

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.Semantic proximity Read ↗

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

A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.Semantic proximity Read ↗

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.Semantic proximity Read ↗

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