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

Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.

Journal of neuroendocrinology - 1 Oct 2022

Kumari Riyanka, Holla Vikram V, Phulpagar Prashant, Sriram Neeharika, Hegde Aditya G, Vengalil Seena, Kamble Nitish, Saini Jitender, Yadav Ravi, Pal Pramod Kumar, Muthusamy Babylakshmi

Abstract excerpt

Woodhouse-Sakati syndrome (WSS) is an extremely rare multisystemic disorder with neuroendocrine dysfunctions. It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with radiological features of small pituitary gland, progressive frontoparietal white matter changes and abnormal accumulation of iron on globus pallidus. WSS is caused...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Alopecia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus

Share to Exome Sequencing

Share to Hypogonadism

Share to Intellectual Disability

Share to Nuclear Proteins

Share to Ubiquitin-Protein Ligase Complexes

Source

Identifiers

PMID: 35876063
DOI: 10.1111/jne.13185

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.PMID 35876063Read ↗

Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.Semantic proximity Read ↗

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.Semantic proximity Read ↗

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.Semantic proximity Read ↗

<i>In silico</i> analysis of coding SNPs and 3′-UTR associated miRNAs in <i>DCAF17</i> gene that may affect the regulation and pathogenesis of Woodhouse-Sakati SyndromeSemantic proximity Read ↗

Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.Semantic proximity Read ↗

Whole Exome Sequencing for the Diagnosis of Rare Genetic Neurodevelopmental Disorders Associated with Cerebellar AtrophySemantic proximity Read ↗

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.Semantic proximity Read ↗

Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing.Semantic proximity Read ↗

Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicingSemantic proximity Read ↗

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.Semantic proximity Read ↗

Expanding the Neurodevelopmental Spectrum of Xia-Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish Cohort.Semantic proximity Read ↗

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.Semantic proximity Read ↗

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