A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family
Nikopoulos, K., Butt, G. U., Farinelli, P., Mudassar, M., Domènech-Estévez, E., Samara, C., Kausar, M., Masroor, I., Chrast, R., Rivolta, C., Siddiqi, S.Volume:
89
Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.12645
Date:
April, 2016
File:
PDF, 210 KB
english, 2016