Article
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Clinical genetics - 1 Nov 2021
Kaur Parneet, do Rosario Michelle C, Hebbar Malavika, Sharma Suvasini, Kausthubham Neethukrishna, Nair Karthik, A Shrikiran, Bhat Y Ramesh, Lewis Leslie Edward S, Nampoothiri Sheela, Patil Siddaramappa J, Suresh Narayanaswami, Bijarnia Mahay Sunita, Dua Puri Ratna, Pai Shivanand, Kaur Anupriya, Kc Rakshith, Kamath Nutan, Bajaj Shruti, Kumble Ali, Shetty Rajesh, Shenoy Rathika, Kamate Mahesh, Shah Hitesh, Muranjan Mamta N, Bl Yatheesha, Avabratha K Shreedhara, Subramaniam Girish, Kadavigere Rajagopal, Bielas Stephanie, Girisha Katta Mohan, Shukla Anju
Abstract excerpt
Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA) was performed for three families and one received a diagnosis....
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