Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 3, 2012, Pages 205-216

  Terhal, Paulien A ^a   Van Dommelen, Paula ^b   Le Merrer, Martine ^c   Zankl, Andreas ^d   Simon, Marleen E H ^e   Smithson, Sarah F ^f   Marcelis, Carlo ^g   Kerr, Bronwyn ^h   Kinning, Esther ⁱ   Mansour, Sahar ^j   Hennekam, Raoul C M ^k   van der Hout, Annemarie H ^l   Cormier Daire, Valerie ^c   Lund, Allan M ^m   Goodwin, Linda ⁿ   Mégarbané, André ^o   Lees, Melissa ^p   Betz, Regina C ^q   Tobias, Edward S ^r   Coucke, Paul ^s   Mortier, Geert R ^t   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b TNO   (Netherlands)

^c INSERM   (France)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f ST MICHAEL'S HOSPITAL   (United Kingdom)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF MANCHESTER   (United Kingdom)

ⁱ ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

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

^k UNIVERSITY OF AMSTERDAM   (Netherlands)

^l UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^m Mental Health Services CPH   (Denmark)

ⁿ NEPEAN HOSPITAL   (Australia)

^o SAINT JOSEPH UNIVERSITY   (Lebanon)

^p GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^q UNIVERSITY OF BONN   (Germany)

^r UNIVERSITY OF GLASGOW   (United Kingdom)

^s GHENT UNIVERSITY   (Belgium)

^t ANTWERP UNIVERSITY HOSPITAL   (Belgium)

more..

Author keywords

COL2A1; Growth; Spondylo epiphyseal dysplasia congenita

Indexed keywords

ARGININE; ASPARAGINE; CYSTEINE; GLYCINE; VALINE;

ADULT; ADULTHOOD; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ANTHROPOMETRIC PARAMETERS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CODON; COL2A1 GENE; FEMALE; GENE; GENE MUTATION; GROWTH CURVE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SPONDYLOEPIPHYSEAL DYSPLASIA;

AMINO ACID SUBSTITUTION; BODY HEIGHT; CHILD; CODON; COLLAGEN TYPE II; FEMALE; GROWTH CHARTS; HUMANS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PROTEIN STRUCTURE, SECONDARY; RNA SPLICING; YOUNG ADULT;

EID: 84864073814     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31332     Document Type: Article

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