Condition: LEUKODYSTROPHY, HYPOMYELINATING, 16


rs1554310600 in TMEM106B gene and LEUKODYSTROPHY, HYPOMYELINATING, 16 PMID 29444210 2018 The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

PMID 29186371 2017 A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.