The genetic basis of DOORS syndrome: an exome-sequencing study

M. Campeau, Philippe; Kasperavičiūtė, Dalia; T. Lu, James; C. Burrage, Lindsay; Kim, Choel; Hori, Mutsuki; R. Powell, Berkley; Stewart, Fiona; Maria Félix, Têmis; van den Ende, Jenneke; Wiśniewska, Marzena; Kayserili, Hülya; Rump, Patrick; Nampoothiri, Sheela; Aftimos, Salim; Mey, Antje; D V Nair, Lal; L. Begleiter, Michael; De Bie, Isabelle; Meenakshi, Girish; L. Murray, Mitzi; M. Repetto, Gabriela; Golabi, Mahin; Blair, Edward; Male, Alison; Giuliano, Fabienne; Kariminejad, Ariana; G Newman, William; S. Bhaskar, Sanjeev; E. Dickerson, Jonathan; Kerr, Bronwyn; Banka, Siddharth; C. Giltay, Jacques; Wieczorek, Dagmar; Tostevin, Anna; Wiszniewska, Joanna; Wai Cheung, Sau; C. M. Hennekam, Raoul; A. Gibbs, Richard; Lee, Brendan; M. Sisodiya, Sanjay

doi:10.1016/s1474-4422(13)70265-5

Public

The genetic basis of DOORS syndrome: an exome-sequencing study

Published in The Lancet Neurology • Nov 29, 2013

Authors:

Philippe M. Campeau

Dalia Kasperavičiūtė

James T. Lu

Abstract

BACKGROUND: Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals. METHODS: Through a search...

Subject

Sanger sequencing

Exome sequencing

Genetics

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