eP360: Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings

Autor:	Andrea Haworth, Tessa Homfray, Suzanne Drury, Rand Dubis, Meriel McEntagart, Kate Tatton Brown, Helen Savage, John Filby, Nick Lench, Eva Serra, Natalie Trump, Nayana Lahiri, Janna Kenny, Frances Elmslie, Phillip Ostrowski, Esther Dempsey, John Short, Charlene Crosby, Christine Hall, Sahar Mansour
Rok vydání:	2022
Předmět:	Genetics (clinical)
Zdroj:	Genetics in Medicine. 24:S226
ISSN:	1098-3600
DOI:	10.1016/j.gim.2022.01.395
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::76552ceac36ff35089319f17b499576a https://doi.org/10.1016/j.gim.2022.01.395 Zobrazit plný text záznamu