Genotypes and phenotypes of children with SHOX deficiency in France

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 7, 2012, Pages

  Rosilio, Myriam ^a   Huber Lequesne, Céline ^b   Sapin, Hél̀ene ^a   Carel, Jean Claude ^b,c,d   Blum, Werner F ^e   Cormier Daire, Valeŕie ^b  

^a Lilly France   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d INSERM   (France)

^e LILLY DEUTSCHLAND GMBH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BODY HEIGHT; CHILD; CONTROLLED STUDY; DISPROPORTIONATE SHORT STATURE; DOWNSTREAM PROCESSING; DYSCHONDROSTEOSIS; ENHANCER REGION; FEMALE; FRANCE; GENE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; GENOTYPE; HUMAN; IDIOPATHIC SHORT STATURE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POINT MUTATION; POPULATION RESEARCH; PRIORITY JOURNAL; SCHOOL CHILD; SEX DIFFERENCE; SHORT STATURE; SHOX DEFICIENCY; SHOX GENE;

ADOLESCENT; ALGORITHMS; BODY HEIGHT; CHILD; DNA MUTATIONAL ANALYSIS; DWARFISM; FEMALE; FRANCE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; LIPOMATOSIS, MULTIPLE SYMMETRICAL; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE;

EID: 84863571382     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-3460     Document Type: Article

References (24)

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