Molecular screening for fragile X syndrome in children with unexplained intellectual disability and/or autistic behaviour.
developmental delay FMR1 screening genetic counseling
Journal
Folia medica
ISSN: 1314-2143
Titre abrégé: Folia Med (Plovdiv)
Pays: Bulgaria
ID NLM: 2984761R
Informations de publication
Date de publication:
28 Feb 2022
28 Feb 2022
Historique:
received:
08
11
2020
accepted:
08
02
2021
entrez:
19
7
2022
pubmed:
20
7
2022
medline:
22
7
2022
Statut:
ppublish
Résumé
Fragile X syndrome (FXS, OMIM #300624) is the most common inherited form of intellectual disability and the leading monogenic cause of autism.
Identifiants
pubmed: 35851904
doi: 10.3897/folmed.64.e60518
doi:
Substances chimiques
Fragile X Mental Retardation Protein
139135-51-6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
27-32Informations de copyright
This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.