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

Meriç R., Ercan-Sencicek A. G., Uludağ Alkaya D., Şahin Y., Sar M., Bilguvar K., ...More

Clinical dysmorphology, vol.30, pp.54-57, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30
  • 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-Cerrahpasa Affiliated: Yes