Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.

Doğan M., Eröz R., Öztürk E.

Ophthalmic genetics, vol.42, no.3, pp.276-282, 2021 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.1080/13816810.2021.1894461
  • Journal Name: Ophthalmic genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Page Numbers: pp.276-282
  • Inonu University Affiliated: Yes