Familial 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

Aylanc H., Sılan F., Çokyaman T., Akcan M. B., Özdemir Ö.

Cumhuriyet Tıp Dergisi (ELEKTRONİK), vol.44, no.1, pp.125-130, 2022 (Peer-Reviewed Journal)

• Publication Type: Article / Case Report
• Volume: 44 Issue: 1
• Publication Date: 2022
• Doi Number: 10.7197/cmj.989474
• Journal Name: Cumhuriyet Tıp Dergisi (ELEKTRONİK)
• Journal Indexes: Index Copernicus
• Page Numbers: pp.125-130
• Open Archive Collection: AVESIS Open Access Collection
• Çanakkale Onsekiz Mart University Affiliated: Yes