G471 Somatic mosaicism in X-linked PDHA1 gene – a cause of developmental delay and epilepsy

JS Kutty; E Crushell; M King; JAF Hughes

doi:10.1136/archdischild-2014-306237.451

Article info

British Inherited Metabolic Disease Group: British Society for Paediatric Endocrinology and Diabetes

G471 Somatic mosaicism in X-linked PDHA1 gene – a cause of developmental delay and epilepsy

Authors

JS Kutty 1National Centre for Inherited Metabolic Disorders, Children’s University Hospital, Dublin, Ireland PubMed articles Google scholar articles
E Crushell 1National Centre for Inherited Metabolic Disorders, Children’s University Hospital, Dublin, Ireland PubMed articles Google scholar articles
M King 2Department of Neurology, Children’s University Hospital, Dublin, Ireland PubMed articles Google scholar articles
JAF Hughes 1National Centre for Inherited Metabolic Disorders, Children’s University Hospital, Dublin, Ireland PubMed articles Google scholar articles

Citation

Kutty J, Crushell E, King M, et al

G471 Somatic mosaicism in X-linked PDHA1 gene – a cause of developmental delay and epilepsy

Archives of Disease in Childhood 2014;99:A195.

Publication history

First published April 7, 2014.

Online issue publication

March 22, 2016

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