Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Kazuhiro IwamaTakeshi MizuguchiJun-Ichi TakanashiHidehiro ShibayamaMinobu ShichijiSusumu ItoHirokazu OguniToshiyuki YamamotoAkiko SekineShun NagamineYoshio IkedaHiroya NishidaSatoko KumadaTakeshi YoshidaTomonari AwayaRyuta TanakaRyo ChikuchiHisayoshi NiwaYu-Ichi OkaSatoko MiyatakeMitsuko NakashimaAtsushi TakataNoriko MiyakeShuichi ItoHirotomo SaitsuNaomichi MatsumotoPublished in: Clinical genetics (2017)
Biallelic SNORD118 mutations were exclusively found in most unrelated families with LCC.