Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of
Genetic counseling
Molecular diagnosis and testing
Protein translation
Regulatory variant
Upstream ORF and ATG
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
entrez:
13
4
2019
pubmed:
13
4
2019
medline:
13
4
2019
Statut:
ppublish
Résumé
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by
Identifiants
pubmed: 30976278
doi: 10.1159/000490635
pii: msy-0010-0040
pmc: PMC6422142
doi:
Types de publication
Journal Article
Langues
eng
Pagination
40-47Références
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