Report of a Novel Homozygous Intragenic
Agenesis of corpus callosum
DCC
Duplication
HGPPS2
Horizontal gaze palsy
Intellectual disability
Progressive scoliosis
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
received:
14
06
2023
accepted:
20
10
2023
pmc-release:
01
09
2024
medline:
8
4
2024
pubmed:
8
4
2024
entrez:
8
4
2024
Statut:
ppublish
Résumé
Horizontal gaze palsy with progressive scoliosis-2 (HGPPS2, MIM 617542) with impaired intellectual development aka developmental split-brain syndrome is an ultra-rare congenital disorder caused by pathogenic biallelic variants in the deleted in colorectal cancer ( We report the clinical and genetic characterization of a Syrian patient with a HGPPS2 phenotype and review the previously published cases of HGPPS2. The genetic screening was performed using exome sequencing on Illumina platform. Genetic analysis revealed a novel The analysis of duplications and deletions in the
Identifiants
pubmed: 38585553
doi: 10.1159/000534772
pii: 534772
pmc: PMC10996338
doi:
Types de publication
Journal Article
Langues
eng
Pagination
149-155Informations de copyright
© 2023 The Author(s). Published by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.