Výsledky vyhledávání - "Elif Çetinoğlu"

Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them

Autor: Semra Gürsoy, Filiz Hazan, Elif Çetinoğlu

Publikováno v: Psychiatric Genetics. 32:194-198

Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to skewed X chro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c7e3b264bb02507008c7caa711d03ac
https://doi.org/10.1097/ypg.0000000000000323

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání