- A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
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Komachali SR, Sheikholeslami M, Salehi M
- KMID: 2531739
- Genomics Inform.
- 2022 Jun;20(2):e24.
- doi: 10.5808/gi.22008
Hypomyelinating leukodystrophy type 2 (HLD2), is an inherited genetic disease of the central nervous system caused by recessive mutations in the gap junction protein gamma 2 (GJC2/GJA12). HLD2 is characterized... -
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