Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis

Cox, P. M., Brueton, L. A., Murphy, K. W., Worthington, V. C., Bjelogrlic, P., Lazda, Edgar Janis, Sabire, N. J. and Sewry, C. A. 1999. Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. American Journal of Medical Genetics 86 (2) , pp. 187-193. 10.1002/(SICI)1096-8628(19990910)86:2<187::AID-AJMG20>3.0.CO;2-7

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Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RG Gynecology and obstetrics R Medicine > RJ Pediatrics
Uncontrolled Keywords:	glycogen storage disease (GSD); amyoplasia; FADS; hydrops; lethal multiple pterygium syndrome; arthrogryposis
Publisher:	Wiley-Blackwell
ISSN:	0148-7299
Last Modified:	19 Mar 2016 23:38
URI:	https://orca.cardiff.ac.uk/id/eprint/59014

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