Open AccessFamilial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method
Author(s) -
Hakan Aylanç,
Fatma Sılan,
Turgay Çokyaman,
Mehmet Berkay Akcan,
Öztürk Özdemir
Publication year - 2022
Publication title -
cumhuriyet tıp dergisi/cumhuriyet üniversitesi tıp fakültesi dergisi
Language(s) - English
Resource type - Journals
eISSN - 1305-0028
pISSN - 1300-1957
DOI - 10.7197/cmj.989474
Subject(s) - multiplex ligation dependent probe amplification , genetics , copy number variation , medicine , microarray , candidate gene , chromosome , microdeletion syndrome , gene , exon , bioinformatics , biology , genome , gene expression
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