title: Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
authors.affiliation: Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: R
authors.initials: R
authors.lastname: Yonezawa
authors.forename: M
authors.initials: M
authors.lastname: Furuya
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: R K
authors.initials: RK
authors.lastname: Pooh
authors.forename: M
authors.initials: M
authors.lastname: Nakashima
authors.forename: H
authors.initials: H
authors.lastname: Saitsu
authors.forename: N
authors.initials: N
authors.lastname: Miyake
authors.forename: S
authors.initials: S
authors.lastname: Saito
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000473:pathology; D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000483:Alleles; D001842:Bone and Bones / Q000002:abnormalities* / Q000473:pathology; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D003598:Cytoskeletal Proteins; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D059472:Exome; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C422843:IFT122 protein, human; D011506:Proteins