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


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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
  • Çanakkale Onsekiz Mart University Affiliated: Yes