Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
intellectual disability, severe
severe global developmental delay
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 2019
06 2019
Historique:
received:
17
10
2018
accepted:
03
01
2019
pubmed:
10
1
2019
medline:
27
5
2020
entrez:
10
1
2019
Statut:
epublish
Résumé
A 55-yr-old male with severe intellectual disability, behavioral problems, kyphoscoliosis, and dysmorphic features was referred for a genetic evaluation. Chromosomal microarray, RASopathy gene panel, mitochondrial sequencing, and fragile X testing were all negative. Subsequent whole-exome sequencing revealed a heterozygous, truncating variant in the
Identifiants
pubmed: 30622101
pii: mcs.a003608
doi: 10.1101/mcs.a003608
pmc: PMC6549549
pii:
doi:
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2019 Murdock et al.; Published by Cold Spring Harbor Laboratory Press.
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