Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature

Tuerkyilmaz A., TÜRKDOĞAN D., Goermez Z., Ekinci G.

CLINICAL DYSMORPHOLOGY, vol.29, no.4, pp.217-223, 2020 (SCI-Expanded, Scopus)

  • Publication Type: Article / Review
  • Volume: 29 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1097/mcd.0000000000000326
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.217-223
  • Karadeniz Technical University Affiliated: Yes