Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Tuğba Daşar"'
Autor:
Tuğba Daşar, Sandra Donkervoort, Pelin Özlem Şimşek Kiper, Rahşan Göçmen, Gülen Eda Utine, Koray Boduroğlu, Carsten Bonnemann, Göknur Haliloğlu
Publikováno v:
Journal of Pediatric Research, Vol 9, Iss 3, Pp 297-301 (2022)
Ehlers Danlos syndrome musculocontractural type (mcEDS) is a rare hereditary connective tissue disorder caused by biallelic pathogenic variants in the CHST14 or dermatan sulfate (DS) epimerase genes resulting in defective DS biosynthesis. It is chara
Externí odkaz:
https://doaj.org/article/b1c968dd33114e93b6ec83486f24e60d
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