Article
Expanding the clinical and genetic spectra of NKX6-2-related disorder.
Clinical genetics - 1 May 2018
Baldi C, Bertoli-Avella A M, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy A A, Al Shamsi A M, Abdelrahman H A, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy K K, Rolfs A, Brandau O, Bauer P
Abstract excerpt
Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD. Using whole-exome or whole-genome sequencing, we identified the previously reported c.196delC and c.487C>G variants in NKX6-2 in 3...
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