Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

European Journal of Human Genetics

Volumn 20, Issue 1, 2012, Pages 125-127

  Benito Sanz, Sara ^a,b   Aza Carmona, Miriam ^a,b   Rodríguez Estevez, Amaya ^c   Rica Etxebarria, Ixaso ^b,c   Gracia, Ricardo ^d   Campos Barros, Ángel ^a,b   Heath, Karen E ^a,b  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL DE CRUCES   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

enhancer; idiopathic short stature; L ri Weill dyschondrosteosis; LWD; SHOX

Indexed keywords

GENOMIC DNA; GROWTH HORMONE; PEPTIDES AND PROTEINS; PSEUDOAUTOSOMAL REGION 1 PROTEIN; SHORT STATURE HOMEOBOX CONTAINING PROTEIN; SOMATOMEDIN C; UNCLASSIFIED DRUG;

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA SEQUENCE; DYSCHONDROSTEOSIS; FAMILY; FATHER; GENE DELETION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SEX CHROMOSOME; SHORT STATURE;

ADOLESCENT; CHROMOSOMES, HUMAN, Y; DWARFISM; ENHANCER ELEMENTS, GENETIC; FEMALE; GENETIC TESTING; GROWTH DISORDERS; HAPLOINSUFFICIENCY; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SEQUENCE DELETION; SEX CHROMOSOME DISORDERS;

EID: 83255185012     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.210     Document Type: Article

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