A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, et al.

日本人のダンディ・ウォーカー症候群患者におけるOPHN1の新規遺伝子内欠失

• PMID: 30534410