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

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

American journal of medical genetics. Part A - 1 Feb 2018

Farach Laura S, Little Mary E, Duker Angela L, Logan Clare V, Jackson Andrew, Hecht Jaqueline T, Bober Michael

Abstract excerpt

RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype than Roifman syndrome. Some of the overlapping features of the two conditions include developmental delay,...

Read the complete abstract on PubMed

Topics

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

Share to Dwarfism
Share to Fetal Growth Retardation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Osteochondrodysplasias

Share to Primary Immunodeficiency Diseases

Share to Retinal Diseases

Share to RNA, Small Nuclear

Share to X-Linked Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 29265708
DOI: 10.1002/ajmg.a.38581
PMCID: PMC6774248

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.PMID 29265708Read ↗

Delineating the phenotype of RNU4ATAC-related spliceosomopathy.Semantic proximity Read ↗

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.Semantic proximity Read ↗

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.Semantic proximity Read ↗

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Semantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.Semantic proximity Read ↗

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Semantic proximity Read ↗

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.Semantic proximity Read ↗

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewSemantic proximity Read ↗

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.Semantic proximity Read ↗

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Semantic proximity Read ↗

Biallelic Variants in<i>CCN2</i>Underlie an Autosomal Recessive Kyphomelic DysplasiaSemantic proximity Read ↗

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).Semantic proximity Read ↗

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