title: A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.
authors.affiliation: Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Koichi
authors.initials: K
authors.lastname: Kusuhara
authors.forename: Akihiko
authors.initials: A
authors.lastname: Nomura
authors.forename: Shouichi
authors.initials: S
authors.lastname: Ohga
authors.forename: Mikiko
authors.initials: M
authors.lastname: Hayashi
authors.forename: Masutaka
authors.initials: M
authors.lastname: Furue
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human