Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy

Autor:	Min Jin Jeon, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim, Man Jin Kim, Byung Chan Lim, Seul Gi Park
Rok vydání:	2020
Předmět:	Marfan syndrome Pediatrics medicine.medical_specialty Neurodevelopmental disorder business.industry medicine Missense mutation Shprintzen–Goldberg syndrome medicine.disease business Rare disease
Zdroj:	Journal of Genetic Medicine. 17:43-46
ISSN:	2383-8442 1226-1769
DOI:	10.5734/jgm.2020.17.1.43
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::fda4927dd2d8e3dfe4c2ff538bf72e92 https://doi.org/10.5734/jgm.2020.17.1.43 Zobrazit plný text záznamu