A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

American Journal of Medical Genetics, Part A

Volumn 167, Issue 3, 2015, Pages 461-475

  Terhal, Paulien A ^a   Nievelstein, Rutger Jan A J ^a   Verver, Eva J J ^b   Topsakal, Vedat ^b   van Dommelen, Paula ^c   Hoornaert, Kristien ^d   Le Merrer, Martine ^e   Zankl, Andreas ^f   Simon, Marleen E H ^g   Smithson, Sarah F ^h   Marcelis, Carlo ⁱ   Kerr, Bronwyn ^j   Clayton Smith, Jill ^j   Kinning, Esther ^k   Mansour, Sahar ^l   Elmslie, Frances ^l   Goodwin, Linda ^m   van der Hout, Annemarie H ⁿ   Veenstra Knol, Hermine E ⁿ   Herkert, Johanna C ⁿ   Lund, Allan M ^o   Hennekam, Raoul C M ^p   Mégarbané, André ^q   Lees, Melissa M ^r   Wilson, Louise C ^r   Male, Alison ^r   Hurst, Jane ^r,s   Alanay, Yasemin ^t   Annerén, Göran ^u   Betz, Regina C ^v   Bongers, Ernie M H F ⁱ   Cormier Daire, Valerie ^e   Dieux, Anne ^w   David, Albert ^x   Elting, Mariet W ^y   van den Ende, Jenneke ^z   Green, Andrew ^aa   van Hagen, Johanna M ^y   Hertel, Niels Thomas ^ab   Holder Espinasse, Muriel ^w,ac   den Hollander, Nicolette ^ad   Homfray, Tessa ^ao   Hove, Hanne D ^ae   Price, Susan ^s   Raas Rothschild, Annick ^af   Rohrbach, Marianne ^ag   Schroeter, Barbara ^ah   Suri, Mohnish ^ai   Thompson, Elizabeth M ^aj,ap   Tobias, Edward S ^ak   Toutain, Annick ^al   Vreeburg, Maaike ^am   Wakeling, Emma ^an   Knoers, Nine V ^a   Coucke, Paul ^d,ao   Mortier, Geert R ^z,ao   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c TNO   (Netherlands)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e INSERM   (France)

^f UNIVERSITY OF SYDNEY   (Australia)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h ST MICHAEL'S HOSPITAL   (United Kingdom)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j UNIVERSITY OF MANCHESTER   (United Kingdom)

^k SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^l ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^m NEPEAN HOSPITAL   (Australia)

ⁿ UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^o Mental Health Services CPH   (Denmark)

^p UNIVERSITY OF AMSTERDAM   (Netherlands)

^q SAINT JOSEPH UNIVERSITY   (Lebanon)

^r GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^s CHURCHILL HOSPITAL   (United Kingdom)

^t ACIBADEM UNIVERSITY   (Turkey)

^u UPPSALA UNIVERSITY   (Sweden)

^v UNIVERSITY OF BONN   (Germany)

^w LILLE UNIVERSITY HOSPITAL   (France)

^x NANTES UNIVERSITY HOSPITAL   (France)

^y VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^z ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^aa UNIVERSITY COLLEGE DUBLIN   (Ireland)

^ab ODENSE UNIVERSITY HOSPITAL   (Denmark)

^ac GUY S HOSPITAL   (United Kingdom)

^ad LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^ae Rigshospitalet   (Denmark)

^af MEIR MEDICAL CENTER   (Israel)

^ag UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^ah LUZERNER KANTONSSPITAL   (Switzerland)

^ai NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^aj WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^ak UNIVERSITY OF GLASGOW   (United Kingdom)

^al CHU BRETONNEAU   (France)

^am MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^an EALING HOSPITAL NHS TRUST   (United Kingdom)

^ao GHENT UNIVERSITY   (Belgium)

^ap UNIVERSITY OF ADELAIDE   (Australia)

more..

Author keywords

COL2A1; Genotype phenotype; Review; SEDC; Spondyloepiphyseal dysplasia

Indexed keywords

ASPARTIC ACID; GLYCINE; PROCOLLAGEN; SERINE; COL2A1 PROTEIN, HUMAN; COLLAGEN TYPE 2;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; ATLANTOAXIAL DISLOCATION; BRONCHOMALACIA; CHILD; CLEFT PALATE; CLINICAL FEATURE; CLUBFOOT; COL2A1 GENE; COXA VARA; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HEARING IMPAIRMENT; HETEROZYGOSITY; HIP ARTHROPLASTY; HUMAN; HYPERMETROPIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOPIA; OSTEOTOMY; PIERRE ROBIN SYNDROME; POPULATION RESEARCH; RESPIRATORY DISTRESS; RETINA DETACHMENT; SCHOOL CHILD; SCOLIOSIS; SPONDYLOEPIPHYSEAL DYSPLASIA; TRACHEOMALACIA; TRACHEOSTOMY; ADULT; AGED; COHORT ANALYSIS; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; MIDDLE AGED; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PRESCHOOL CHILD; RADIOGRAPHY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COLLAGEN TYPE II; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; YOUNG ADULT;

EID: 84923052654     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36922     Document Type: Article

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