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; ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ AYLANC,
Fatma; ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ SILAN,
Turgay; ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ ÇOKYAMAN,
Mehmet Berkay; ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ AKCAN,
Öztürk; ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ ÖZDEMİR
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