Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

European Journal of Human Genetics

Volumn 15, Issue 2, 2007, Pages 150-154

  Zankl, Andreas ^a   Jackson, Gail C ^b,c   Crettol, Laureane Mittaz ^a   Taylor, Jacky ^b   Elles, Rob ^b   Mortier, Geert R ^d   Spranger, Jurgen ^e   Zabel, Bernhard ^e   Unger, Sheila ^a   Le Merrer, Martine ^f   Cormier Daire, Valerie ^f   Hall, Christine M ^g   Wright, Michael J ^h   Bonafe, Luisa ^a   Superti Furga, Andrea ^a   Briggs, Michael D ^c  

^a Division of Molecular Paediatrics   (Switzerland)

^b National Genetics Reference Laboratory   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARTILAGE OLIGOMERIC MATRIX PROTEIN;

ADULT; ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; EPIPHYSIS DISEASE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HUMAN; IMAGE ANALYSIS; MALE; MEDICAL EXPERT; MUTATIONAL ANALYSIS; PRACTICE GUIDELINE; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC SCREENING; GLYCOPROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION; OSTEOCHONDRODYSPLASIAS;

EID: 33846301707     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201744     Document Type: Article

References (10)

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