Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report

BMC Musculoskeletal Disorders

Volumn 11, Issue , 2010, Pages

  Hinrichs, Timo ^a   Superti Furga, Andrea ^b   Scheiderer, Wolf Dieter ^c   Bonafé, Luisa ^d   Brenner, Rolf E ^e   Mattes, Thomas ^e  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c Rehabilitation Hospital Saulgau   (Germany)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^e UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN; PROTEIN DTDST; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG; ANION TRANSPORT PROTEIN; CYSTEINE; SERINE; SLC26A2 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DIAGNOSTIC PROCEDURE; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HETEROZYGOTE; HIP CONTRACTURE; HIP PAIN; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; KNEE FUNCTION; KNEE PAIN; LOW BACK PAIN; MALE; METACARPOPHALANGEAL JOINT; MOLECULAR GENETICS; MUSCLE STRENGTH; OCCUPATIONAL THERAPY; ORTHOPEDIC SURGERY; OSTEOARTHRITIS; OUTCOME ASSESSMENT; PATELLA DISLOCATION; PATELLOFEMORAL JOINT; PHENOTYPE; PHYSICAL EXAMINATION; PHYSIOTHERAPY; PIGEON THORAX; PROGNOSIS; RECESSIVE MULTIPLE EPIPHYSEAL DYSPLASIA; RECURRENT DISLOCATION; SCOLIOSIS; SPINE RADIOGRAPHY; TIBIA TUBEROSITY; VASTUS MEDIALIS MUSCLE; AMINO ACID SUBSTITUTION; CHONDRODYSPLASIA; CONGENITAL MALFORMATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; KNEE DISLOCATION; METHODOLOGY; MUTATION; PATELLA; PATHOLOGY; RECESSIVE GENE; TREATMENT OUTCOME;

ADULT; AMINO ACID SUBSTITUTION; ANION TRANSPORT PROTEINS; CYSTEINE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMOZYGOTE; HUMANS; KNEE DISLOCATION; MALE; MUTATION; ORTHOPEDIC PROCEDURES; OSTEOCHONDRODYSPLASIAS; PATELLA; PHENOTYPE; SERINE; TREATMENT OUTCOME;

EID: 77954568427     PISSN: None     EISSN: 14712474     Source Type: Journal    
DOI: 10.1186/1471-2474-11-110     Document Type: Article

References (32)

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