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.