Yazar "Kelsell, D. P." için Fen Edebiyat Fakültesi / Faculty of Letters and Science listeleme

Toplam kayıt 1, listelenen: 1-1

    • A novel homozygous nonsense mutation in CAST associated with PLACK syndrome 

      Temel, Sehime Gulsun; Karakas, B.; Seker, U.; Turkgenc, B.; Zorlu, O.; Saricaoglu, H.; Ogur, C.; Kutuk, O.; Kelsell, D. P.; Yakicier, M. C. (2019)
      Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal ...