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A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia.
Clin. Genet. 100, 489-490 (2021)
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Publication type
Article: Journal article
Document type
Scientific Article
Language
english
Publication Year
2021
HGF-reported in Year
2021
ISSN (print) / ISBN
0009-9163
e-ISSN
1399-0004
Journal
Clinical Genetics
Quellenangaben
Volume: 100,
Issue: 4,
Pages: 489-490
Publisher
Wiley
Publishing Place
111 River St, Hoboken 07030-5774, Nj Usa
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
POF-Topic(s)
30205 - Bioengineering and Digital Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-503200-001
WOS ID
WOS:000678381400001
Scopus ID
85111245935
PubMed ID
34313322
Erfassungsdatum
2021-08-04