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

por Uehara, Daniela Tiaki, Muramatsu, Tomoki, Ishii, Senichi, Suzuki, Hidetsugu, Fukushima, Kazuyuki, Arasaki, Yasuhiro, Hayata, Tadayoshi, Inazawa, Johji, Ezura, Yoichi
Publicado 2023

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICP...

por Hayashi, Shin, Uehara, Daniela Tiaki, Tanimoto, Kousuke, Mizuno, Seiji, Chinen, Yasutsugu, Fukumura, Shinobu, Takanashi, Jun-ichi, Osaka, Hitoshi, Okamoto, Nobuhiko, Inazawa, Johji
Publicado 2017