title: A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.
authors: Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan; Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Ishikawa, Japan.
authors: Masatsune
authors: M
authors: Itoh
authors: Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan.
authors: Yuko
authors: Y
authors: Kittaka
authors: Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Ishikawa, Japan.
authors: Yo
authors: Y
authors: Niida
authors: Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan.
authors: Yutaka
authors: Y
authors: Saikawa
keywords: TRPS type 1 (TPRS1); Tricho-rhino-phalangeal syndrome (TRPS); novel frameshift mutation