title: Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: Chao-Kai
authors.initials: CK
authors.lastname: Hsu
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Romano
authors.affiliation: As' ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait.
authors.forename: Arti
authors.initials: A
authors.lastname: Nanda
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
authors.forename: Ellie
authors.initials: E
authors.lastname: Rashidghamat
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
authors.forename: John Y W
authors.initials: JYW
authors.lastname: Lee
authors.affiliation: Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: Hsin-Yu
authors.initials: HY
authors.lastname: Huang
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK; Department of Dermatology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors.forename: Chankiat
authors.initials: C
authors.lastname: Songsantiphap
authors.affiliation: Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: Julia Yu-Yun
authors.initials: JY
authors.lastname: Lee
authors.affiliation: As' ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait.
authors.forename: Hejab
authors.initials: H
authors.lastname: Al-Ajmi
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: Regina C
authors.initials: RC
authors.lastname: Betz
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK. Electronic address: john.mcgrath@kcl.ac.uk.
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
authors.forename: Christos
authors.initials: C
authors.lastname: Tziotzios
mesh_terms: D002675:Child, Preschool; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006197:Hair / Q000002:abnormalities; D006201:Hair Diseases / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D007730:Kuwait; D008297:Male; D009154:Mutation; D009264:Nails, Malformed / Q000151:congenital* / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D000080063:Protein-Arginine Deiminase Type 3; D000076342:Protein-Arginine Deiminases / Q000235:genetics*; D019699:Thrombospondins / Q000235:genetics*; D000098907:R-Spondins
chemical_list: D000080063:Protein-Arginine Deiminase Type 3; D000076342:Protein-Arginine Deiminases; D019699:Thrombospondins; C516169:RSPO4 protein, human; D000098907:R-Spondins; C000619078:PADI3 protein, human