Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation.
Lebanon
XYLT2
ocular disorders
skeletal disorders
spondyloocular syndrome
whole exome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
15 02 2023
15 02 2023
Historique:
received:
28
01
2023
revised:
08
02
2023
accepted:
13
02
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
Spondyloocular syndrome (SOS, OMIM # 605822) is a rare genetic disorder characterized by osseous and ocular manifestations, including generalized osteoporosis, multiple long bones fractures, platyspondyly, dense cataracts and retinal detachment, and dysmorphic facial features, with or without short stature, cardiopathy, hearing impairment, and intellectual disability. Biallelic mutations in the
Identifiants
pubmed: 36833424
pii: genes14020497
doi: 10.3390/genes14020497
pmc: PMC9957273
pii:
doi:
Substances chimiques
Codon, Nonsense
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Références
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