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

Author:

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

Funder

NIH

BCM Intellectual and Developmental Disabilities Research Center

Ruth L Kirschstein National Research Service Award

Medical Genetics Research Fellowship Program

Publisher

Elsevier BV

Subject

Neurology (clinical)

Reference40 articles.

1. Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome);Cantwell;Humangenetik,1975

2. Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome;Qazi;J Pediatr,1984

3. DOOR syndrome: clinical report, literature review and discussion of natural history;James;Am J Med Genet A,2007

4. DOOR syndrome;Girish;Indian Pediatr,2011

5. Anaesthetic management of an adult patient with DOOR syndrome: a case report;Michalek;Cases J,2009

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