Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.
attention deficit hyperactivity disorder
autism
delayed fine motor development
delayed gross motor development
intellectual disability
macrocephaly at birth
moderate
moderate global developmental delay
postnatal macrocephaly
sleep disturbance
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
medline:
13
7
2023
pubmed:
21
6
2023
entrez:
20
6
2023
Statut:
epublish
Résumé
PPP2 syndrome type R5D, or Jordan's syndrome, is a neurodevelopmental disorder caused by pathogenic missense variants in
Identifiants
pubmed: 37339871
pii: mcs.a006285
doi: 10.1101/mcs.a006285
pmc: PMC10393186
pii:
doi:
Substances chimiques
PPP2R5D protein, human
0
Protein Phosphatase 2
EC 3.1.3.16
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 Levine and Chung; Published by Cold Spring Harbor Laboratory Press.
Références
J Dev Behav Pediatr. 1994 Oct;15(5):370-8
pubmed: 7868706
J Cell Sci. 2021 Jul 1;134(13):
pubmed: 34228795
J Clin Invest. 2015 Aug 3;125(8):3051-62
pubmed: 26168268
Nature. 2015 Mar 12;519(7542):223-8
pubmed: 25533962
J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):811-817
pubmed: 31124988
Int J Mol Sci. 2020 Feb 14;21(4):
pubmed: 32074998
Neurogenetics. 2016 Jan;17(1):43-9
pubmed: 26576547
Methods Mol Biol. 2013;1053:283-305
pubmed: 23860660
Eur J Med Genet. 2021 Jan;64(1):104123
pubmed: 33338668
Hum Mol Genet. 2019 May 1;28(9):1578
pubmed: 30615140
Ann Neurol. 2020 Nov;88(5):1028-1033
pubmed: 32743835
Biochim Biophys Acta. 2009 Jan;1795(1):1-15
pubmed: 18588945
J Med Genet. 2023 May;60(5):511-522
pubmed: 36216457
Nat Genet. 2016 Feb;48(2):126-133
pubmed: 26656846