A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy

Autor:	Bo Xiao, Xi Zhang, Hongyu Long, Hongjun Fang, Lily Zhang
Rok vydání:	2020
Předmět:	Pediatrics medicine.medical_specialty Cornelia de Lange Syndrome Neurology business.industry De novo mutation SMC1A Gene Dermatology General Medicine medicine.disease Drug Resistant Epilepsy Psychiatry and Mental health medicine Neurology (clinical) Neurosurgery business Neuroradiology
Zdroj:	Neurological Sciences. 42:329-331
ISSN:	1590-3478 1590-1874
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::0cdcc9d0d4fd2bfd319b5758864acf6b https://doi.org/10.1007/s10072-020-04559-3 Zobrazit plný text záznamu Full text from SpringerLink