A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family
Clin Genet
.
2016 Apr;89(4):510-511.
doi: 10.1111/cge.12645.
Epub 2015 Aug 18.
Authors
K Nikopoulos
1
,
G U Butt
2
,
P Farinelli
1
,
M Mudassar
2
,
E Domènech-Estévez
1
3
4
,
C Samara
1
,
M Kausar
5
,
I Masroor
2
,
R Chrast
1
3
4
,
C Rivolta
1
,
S Siddiqi
5
Affiliations
1
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
2
Nephrology Department, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
3
Department of Neuroscience, Karolinska Institute, Stockholm, Sweden.
4
Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.
5
Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
PMID:
26285675
DOI:
10.1111/cge.12645
No abstract available
Publication types
Letter