Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants.

Details

Ressource 1Download: Pomar.pdf (806.97 [Ko])
State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_5171352FB8B9
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants.
Journal
Maternal-fetal medicine
Author(s)
Kratochwila C., Sichitiu J., Lebon S., Kumps C., Pomar L.
ISSN
2641-5895 (Electronic)
ISSN-L
2641-5895
Publication state
Published
Issued date
04/2025
Peer-reviewed
Oui
Volume
7
Number
2
Pages
116-118
Language
english
Notes
Publication types: Letter
Publication Status: ppublish
Keywords
CSNK2A1, Cerebellar vermis, Developmental encephalopathy, KCNQ5, Okur-Chung syndrome
URN
urn:nbn:ch:serval-BIB_5171352FB8B99
OAI-PMH
oai:serval.unil.ch:BIB_5171352FB8B9
DOI
10.1097/FM9.0000000000000271
Pubmed
40620262
Web of science
001472021000013
Open Access
Yes
Create date
23/05/2025 10:55
Last modification date
15/07/2025 7:04
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