Czech dysplasia: Report of a large family and further delineation of the phenotype

American Journal of Medical Genetics, Part A

Volumn 146, Issue 14, 2008, Pages 1859-1864

  Tzschach, Andreas ^a,b   Tinschert, Sigrid ^c   Kaminsky, Elke ^d   Lusga, Eugen ^d   Mundlos, Stefan ^a   Graul Neumann, Luitgard M ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Arthritis; COL2A1; Czech dysplasia; Deafness; Sensorineural hearing loss; Spondyloepiphyseal osteoarthritis

Indexed keywords

ARGININE; COLLAGEN TYPE 2; COLLAGEN TYPE 2A1; CYSTEINE;

ADULT; ARTHRITIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; COL2A1 GENE; CZECH DYSPLASIA; FOOT MALFORMATION; GENE; HEARING AID; HUMAN; LOW BACK PAIN; MALE; METATARSAL BONE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PERCEPTION DEAFNESS; PHENOTYPE; PLATYSPONDYLY; PRIORITY JOURNAL; SYMPTOM; TOTAL HIP PROSTHESIS;

ADOLESCENT; ADULT; AGED; BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE II; CZECH REPUBLIC; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 47349093974     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32389     Document Type: Article

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