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

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

American journal of medical genetics. Part A - 1 Sept 2020

Carminho-Rodrigues Maria Teresa, Steel Dora, Sousa Sergio B, Brandt Gregor, Guipponi Michel, Laurent Sacha, Fokstuen Siv, Moren Aurea, Zacharia André, Dirren Elisabeth, Oliveira Renata, Kurian Manju A, Burkhard Pierre R, Bally Julien F

Abstract excerpt

YY1 mutations cause Gabriele-de Vries syndrome, a recently described condition involving cognitive impairment, facial dysmorphism and intrauterine growth restriction. Movement disorders were reported in 5/10 cases of the original series, but no detailed description was provided. Here we present a 21-year-old woman with a mild intellectual deficit, facial dysmorphism and a complex movement disorder including an...

Read the complete abstract on PubMed

Topics

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

Share to Exome
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Infant, Newborn

Share to Intellectual Disability

Share to Movement Disorders

Share to Neurodevelopmental Disorders

Share to YY1 Transcription Factor

Source

Identifiers

PMID: 32627382
DOI: 10.1002/ajmg.a.61731

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).PMID 32627382Read ↗

Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.Semantic proximity Read ↗

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.Semantic proximity Read ↗

Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.Semantic proximity Read ↗

The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.Semantic proximity Read ↗

Heterozygous YY1 mutation - A mimicker of SGCE-myoclonus-dystonia.Semantic proximity Read ↗

Evaluation of the X-chromosome inactivation patterns in females with Gabriele-de Vries syndrome and expansion of clinical spectrumSemantic proximity Read ↗

First Reported Case of Gabriele-de Vries Syndrome with Spinal DysraphismSemantic proximity Read ↗

A novel compound heterozygous YY1AP1 variant in Grange syndrome: importance of early signs in preventing life-threatening vascular complications.Semantic proximity Read ↗

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Semantic proximity Read ↗

DNA methylation episignature in Gabriele-de Vries syndrome.Semantic proximity Read ↗

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.Semantic proximity Read ↗

A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.Semantic proximity Read ↗

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