首页> Journal of human genetics> Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.

Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.

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第一作者： Ryuta,Orimoto

第一单位： Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.

作者： Ryuta,Orimoto ^[1] ; Eriko,Adachi ^[1] ; Maki,Gau ^[2] ; Yoko,Saito ^[1] ; Haruki,Yamano ^[1] ; Hisae,Nakatani ^[1] ; Shizuka,Kirino ^[1] ; Kengo,Moriyama ^[1] ; Yohei,Yamaguchi ^[1] ; Tomoko,Mizuno ^[1] ; Taku,Ishii ^[1] ; Masayuki,Yoshida ^[2] ; Kenichi,Kashimada ^[3] ; Kei,Takasawa ^[4]

作者单位： Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan. ^[1] Department of Life Science and Bioethics, Institute of Science Tokyo, Tokyo, Japan. ^[2] Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.;Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan. ^[3] Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan. ktakasawa.ped@tmd.ac.jp. ^[4]