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

Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2021

Fattal-Valevski Aviva, Ben Sira Liat, Lerman-Sagie Tally, Strausberg Rachel, Bloch-Mimouni Aviva, Edvardson Simon, Kaufman Rami, Chernuha Veronika, Schneebaum Sender Nira, Heimer Gali, Ben Zeev Bruria

Abstract excerpt

BACKGROUND: and Purpose: Postnatal progressive microcephaly, with seizures and brain atrophy (OMIM # 613668) is a rare disorder caused by a homozygous founder missense mutation c.1112T>C (p.L371P) in the MED17 gene on chromosome 11 that was identified in 2010 in Caucasus Jewish families. The present study aimed to delineate the phenotype and developmental outcomes in patients diagnosed with this mutation to date....

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Mediator Complex

Share to Microcephaly

Share to Mutation, Missense

Share to Nervous System Malformations

Source

Identifiers

PMID: 33756211
DOI: 10.1016/j.ejpn.2020.08.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.PMID 33756211Read ↗

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.Semantic proximity Read ↗

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.Semantic proximity Read ↗

Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort.Semantic proximity Read ↗

Clinical, Radiological and Genetic Variation In Pontocerebellar Hypoplasia Disorder & Our Clinical ExperienceSemantic proximity Read ↗

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Semantic proximity Read ↗

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.Semantic proximity Read ↗

Growth charts for pontocerebellar hypoplasia type 2ASemantic proximity Read ↗

ANKRD17 Gene Heterozygous Variant Leads to Chopra-Amiel-Gordon Syndrome: A Case Study and Literature ReviewSemantic proximity Read ↗

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Semantic proximity Read ↗

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.Semantic proximity Read ↗

Atypical Hypotonia-Dominant Infantile Presentation of Genetically Confirmed Schwartz-Jampel Syndrome: A Case ReportSemantic proximity Read ↗

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