血縁関係にある非定型ゴーハム・スタウト病患者におけるガスダーミンDの両対立遺伝子のミスセンス変異（c.823G > C, p.Asp275His）の同定

Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family

Uehara DT et al., JBMR Plus 2023.