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

Tarih
2014
Yazar
De Bie, Isabelle
Meenakshi, Girish
Murray, Mitzi L.
Repetto, Gabriela M.
Felix, Temis Maria
van den Ende, Jenneke
Wisniewska, Marzena
Rump, Patrick
Nampoothiri, Sheela
Aftimos, Salim
Mey, Antje
Nair, Lal D. V.
Begleiter, Michael L.
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.
Kayserili, Hülya
Stewart, Fiona
Campeau, Philippe M.
Kasperaviciute, Dalia
Lu, James T.
Burrage, Lindsay C.
Kim, Choel
Hori, Mutsuki
Powell, Berkley R.
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Özet
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.
Bağlantı
http://hdl.handle.net/20.500.12627/143689
https://doi.org/10.1016/s1474-4422(13)70265-5
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