Bain type of X-linked syndromic mental retardation in boys.

Humans Intellectual Disability Male Mental Retardation, X-Linked Syndrome

Journal

Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664

Informations de publication

Date de publication:
06 2019
Historique:
received: 04 12 2018
revised: 01 02 2019
accepted: 04 02 2019
pubmed: 20 3 2019
medline: 3 3 2020
entrez: 20 3 2019
Statut: ppublish

Résumé

A hemizygous variant in the HNRNPH2 gene causes MRXSB in a male individual.

Identifiants

DOI: 10.1111/cge.13524 PMID: 30887513
pubmed: 30887513
doi: 10.1111/cge.13524
doi:

Types de publication

Letter Research Support, Non-U.S. Gov't Comment

Langues

eng

Sous-ensembles de citation

IM

Pagination

734-735

Commentaires et corrections

Type : CommentOn
Type : CommentIn

Informations de copyright

© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Auteurs

Stefani Harmsen (S)

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

Rebecca Buchert (R)

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany.

Ertan Mayatepek (E)

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

Tobias B Haack (TB)

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Centre for Rare Diseases, University of Tuebingen, Tuebingen, Germany.

Felix Distelmaier (F)

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
ORCID: 0000-0003-4304-7848

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Bain type of X-linked syndromic mental...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › Bain type of X-linked syndromic mental...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Retard mental lié à l'X › Bain type of X-linked syndromic mental...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Maladie › Syndrome › Bain type of X-linked syndromic mental...