A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
K
K
Nikopoulos
Nephrology Department, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
G U
GU
Butt
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
P
P
Farinelli
Nephrology Department, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
M
M
Mudassar
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.|Department of Neuroscience, Karolinska Institute, Stockholm, Sweden.|Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.
E
E
Domènech-Estévez
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
C
C
Samara
Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
M
M
Kausar
Nephrology Department, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
I
I
Masroor
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.|Department of Neuroscience, Karolinska Institute, Stockholm, Sweden.|Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.
R
R
Chrast
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
C
C
Rivolta
Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
S
S
Siddiqi