Article
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
American journal of human genetics - 15 Jul 2011
Rafiq Muhammad Arshad, Kuss Andreas W, Puettmann Lucia, Noor Abdul, Ramiah Annapoorani, Ali Ghazanfar, Hu Hao, Kerio Nadir Ali, Xiang Yong, Garshasbi Masoud, Khan Muzammil Ahmad, Ishak Gisele E, Weksberg Rosanna, Ullmann Reinhard, Tzschach Andreas, Kahrizi Kimia, Mahmood Khalid, Naeem Farooq, Ayub Muhammad, Moremen Kelley W, Vincent John B, Ropers Hans Hilger, Ansar Muhammad, Najmabadi Hossein
Abstract excerpt
We have used genome-wide genotyping to identify an overlapping homozygosity-by-descent locus on chromosome 9q34.3 (MRT15) in four consanguineous families affected by nonsyndromic autosomal-recessive intellectual disability (NS-ARID) and one in which the patients show additional clinical features. Four of the families are from Pakistan, and one is from Iran. Using a combination of next-generation sequencing and...
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