Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of
3q23 deletion
Anti-müllerian hormone
BPES
COPB2
FOXL2
Inhibin B
MRPS22
Ovarian function
Regulatory elements
array CGH
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
May 2019
May 2019
Historique:
accepted:
17
12
2018
entrez:
14
6
2019
pubmed:
14
6
2019
medline:
14
6
2019
Statut:
ppublish
Résumé
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous
Identifiants
pubmed: 31191203
doi: 10.1159/000497092
pii: msy-0010-0147
pmc: PMC6528085
doi:
Types de publication
Journal Article
Langues
eng
Pagination
147-153Références
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