Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ekim Zihni Taşkıran"'
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
Abstract Background Xeroderma pigmentosum is an extremely serious genetic disorder defined by sensitivity to sunlight, resulting in sunburn and pigment changes. If patients are not completely protected from ultraviolet radiation, xeroderma pigmentosu
Externí odkaz:
https://doaj.org/article/d29823bbd1554d43a9653e0cb1aaa6b5
Autor:
Tuğba Daşar, Pelin Özlem Şimşek-Kiper, Ekim Zihni Taşkıran, Murat Çağan, Özgür Özyüncü, Özgür Deren, Gülen Eda Utine, Kadri Şafak Güçer, Koray Boduroğlu
Publikováno v:
European journal of medical genetics. 65(12)
Glycine encephalopathy with normal serum glycine (MIM #617301), also known as GLYT1 encephalopathy, is an extremely rare disorder caused by biallelic variants in SLC6A9 and characterised by facial dysmorphic features, skeletal findings including cont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f087237a5c27a81a992484bdc6de5142
https://pubmed.ncbi.nlm.nih.gov/36195292
https://pubmed.ncbi.nlm.nih.gov/36195292