A Novel Frameshift Chd4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial T(17;19) and a Large Dup(2)(Q14.3Q21.1)

AuthID
 P-00X-V6F
7
Author(s)
Tkachenko, N
·
Fino, J
·
Marques, M
·
Fortuna, AM
·
Document Type
Article
Year published
2023
Published
in BIOMEDICINES, ISSN: 2227-9059
Volume: 11, Issue: 1, Pages: 12 (11)
Indexing
Wos®
Scopus®
Crossref®
Pubmed®
Google Scholar®
Publication Identifiers
Pubmed: 36672520
Scopus: 2-s2.0-85146817278
Wos: WOS:000916871900001
Source Identifiers
ISSN: 2227-9059
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