A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant


Meric R., Ercan-Sencicek A. G., ULUDAĞ ALKAYA D., Sahin Y., SAR M., Bilguvar K., ...More

CLINICAL DYSMORPHOLOGY, vol.30, no.1, pp.54-57, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.1097/mcd.0000000000000350
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.54-57
  • Istanbul University Affiliated: Yes