Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2269-2273

  Takagi, Masaki ^a   Hori, Naoaki ^a,b   Chinen, Yasutsugu ^c   Kurosawa, Kenji ^d   Tanaka, Yukichi ^d   Oku, Kikuko ^e   Sakata, Hitomi ^e   Fukuzawa, Ryuji ^f   Nishimura, Gen ^f   Spranger, Jürgen ^g   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Sano Kousei General Hospital   (Japan)

^c UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e Kawaguchi Municipal Medical Center   (Japan)

^f TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^g UNIVERSITY OF FREIBURG   (Germany)

Author keywords

C propeptide; COL1A1; Dense bone; Osteogenesis imperfecta; Type IIC

Indexed keywords

ARTICLE; BONE BOWING; BONE DENSITY; BONE MALFORMATION; BONE RADIOGRAPHY; CASE REPORT; CHILD; CHRONIC LUNG DISEASE; CLAVICLE FRACTURE; COLA1A1 GENE; CONGENITAL PSEUDARTHROSIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; GENE; GENE LOCATION; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDRAMNIOS; HYPERTELORISM; MACROCEPHALY; MALE; MICROGNATHIA; MOLECULAR CLONING; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NEWBORN; OSTEOGENESIS IMPERFECTA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RIB FRACTURE; SCHOOL CHILD; SCLEROSIS; SEQUENCE ANALYSIS; SHORT STATURE;

BASE SEQUENCE; BONE AND BONES; BONE DENSITY; CHILD; COLLAGEN TYPE I; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PROTEIN PRECURSORS; SEQUENCE ANALYSIS, DNA;

EID: 81155159640     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34152     Document Type: Article

References (11)

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