Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.

Autor: Matsumoto H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Hori T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan., Mori M; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan., Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.; Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan., Tokuyama T; Department of Orthopedic Surgery, Kibogaoka Medical and Support Center for Children, Gifu, Japan., Yamada T; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.; Japanese Skeletal Dysplasia Consortium, Tokyo, Japan., Ohnishi H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.
Jazyk: angličtina
Zdroj: Pediatrics international : official journal of the Japan Pediatric Society [Pediatr Int] 2024 Jan-Dec; Vol. 66 (1), pp. e15766.
DOI: 10.1111/ped.15766
Databáze: MEDLINE