Behavioral and cognitive functioning in individuals with Cantú syndrome.
Adolescent
Adult
Aged
Alleles
Behavior
Cardiomegaly
/ diagnosis
Child
Child, Preschool
Cognition
Emotions
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Hypertrichosis
/ diagnosis
Infant
Male
Middle Aged
Mutation
Osteochondrodysplasias
/ diagnosis
Phenotype
Sulfonylurea Receptors
Young Adult
Cantú syndrome
DSM V
autism
behavior
intelligence
psychiatric symptoms
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
revised:
20
04
2021
received:
26
11
2020
accepted:
07
05
2021
pubmed:
1
6
2021
medline:
13
1
2022
entrez:
31
5
2021
Statut:
ppublish
Résumé
Cantú syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore-forming subunits of ATP-sensitive potassium (K
Identifiants
pubmed: 34056838
doi: 10.1002/ajmg.a.62348
pmc: PMC8631004
mid: NIHMS1712160
doi:
Substances chimiques
ABCC9 protein, human
0
Sulfonylurea Receptors
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2434-2444Subventions
Organisme : NICHD NIH HHS
ID : R21 HD103347
Pays : United States
Informations de copyright
© 2021 Wiley Periodicals LLC.
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