Cerebellar ataxia
Dysmorphology
Whole exome sequencing
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Jan 2019
Jan 2019
Historique:
accepted:
29
08
2018
entrez:
26
2
2019
pubmed:
26
2
2019
medline:
26
2
2019
Statut:
ppublish
Résumé
We report on a girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature, facial dysmorphic features including microcephaly, sparse hair, bilateral epicanthal folds, ataxia, seizures, and elevated lactate and pyruvate levels in serum. Whole exome sequencing was carried out on the patient's DNA. Potentially causal homozygous variants in the
Identifiants
pubmed: 30800049
doi: 10.1159/000494465
pii: msy-0009-0319
pmc: PMC6381915
doi:
Types de publication
Journal Article
Langues
eng
Pagination
319-323Références
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