title: Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Moriya
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Niizuma
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Rikiishi
authors.affiliation: Department of Hematology, Nippon Medical School, Bunkyo-ku, Tokyo, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Yamaguchi
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
authors.forename: Yoji
authors.initials: Y
authors.lastname: Sasahara
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba-ku, Sendai, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics*; D019871:Dyskeratosis Congenita / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D009154:Mutation
chemical_list: C532890:RTEL1 protein, human; D004265:DNA Helicases