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

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

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.Through a search of available case stu...

Cur síos iomlán

Sábháilte in:
Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wiśniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L. Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L. Murray, Gabriela M. Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G. Newman, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C. Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C. M. Hennekam, Richard A. Gibbs, Brendan Lee, Sanjay M. Sisodiya
Formáid: Artigo
Teanga:Béarla
Foilsithe / Cruthaithe: 2013
Rochtain ar líne:https://doi.org/10.1016/s1474-4422(13)70265-5
http://www.thelancet.com/article/S1474442213702655/pdf
Clibeanna: Cuir clib leis
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!

Ar líne

https://doi.org/10.1016/s1474-4422(13)70265-5
http://www.thelancet.com/article/S1474442213702655/pdf

Míreanna comhchosúla