@article{cb4920f27ee64115a0b27f10ae17f71c,
title = "Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita",
keywords = "fetal hypo-, akinesia, club foot, -feet, complicated spastic paraplegia, spasticity, Xq11, 2 microdeletion, INTELLECTUAL DISABILITY, MENTAL-RETARDATION, MUTATIONS, GENE, CONTRACTURES, SPECTRUM, METHYLATION, DIAGNOSIS, DELETIONS, EXCHANGE",
author = "Frints, {Suzanna G. M.} and Friederike Hennig and Roberto Colombo and Sebastien Jacquemont and Paulien Terhal and Zimmerman, {Holly H.} and David Hunt and Mendelsohn, {Bryce A.} and Ulrike Kordass and Richard Webster and Margje Sinnema and Omar Abdul-Rahman and Vanessa Suckow and Alberto Fernandez-Jaen and {van Roozendaal}, Kees and Stevens, {Servi J. C.} and Macville, {Merryn V. E.} and Salwan Al-Nasiry and {van Gassen}, Koen and Norbert Utzig and Koudijs, {Suzanne M.} and Lesley McGregor and Maas, {Saskia M.} and Diana Baralle and Abhijit Dixit and Peter Wieacker and Marcus Lee and Lee, {Arthur S.} and Engle, {Elizabeth C.} and Gunnar Houge and Gradek, {Gyri A.} and Douglas, {Andrew G. L.} and Cheryl Longman and Shelagh Joss and Danita Velasco and Hennekam, {Raoul C.} and Hiromi Hirata and Kalscheuer, {Vera M.}",
year = "2019",
month = dec,
doi = "10.1002/humu.23841",
language = "English",
volume = "40",
pages = "2270--2285",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley",
number = "12",
}