Compound Heterozygous RYR1 Mutation in a Preterm with Arthrogryposis and Core Myopathy with Prenatal CNS Bleedings

Autor:	M. Türk, N. Gratzki, R. Schröder, Florian Brackmann, Regina Trollmann, O. Rompel, Heinz Jungbluth
Rok vydání:	2017
Předmět:	RYR1 Arthrogryposis Genetics Core (anatomy) business.industry General Medicine Compound heterozygosity Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Medicine Neurology (clinical) medicine.symptom business Myopathy
Zdroj:	Neuropediatrics. 48:S1-S45
ISSN:	1439-1899 0174-304X
DOI:	10.1055/s-0037-1602970
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4feb7dcfc0345baec8796e342d2b12af https://doi.org/10.1055/s-0037-1602970 Zobrazit plný text záznamu