SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis

Gene

Volumn 491, Issue 2, 2012, Pages 123-127

  Hirschfeldova, K ^a   Solc, R ^a   Baxova, A ^a   Zapletalova, J ^b   Kebrdlova, V ^a   Gaillyova, R ^c   Prasilova, S ^c   Soukalova, J ^c   Mihalova, R ^a   Lnenicka, P ^a   Florianova, M ^a   Stekrova, J ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b PALACKÝ UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL BRNO   (Czech Republic)

Author keywords

Deletion; Duplication; Dyschondrosteosis; Pseudoautosomal region; Short stature; SHOX

Indexed keywords

HOMEODOMAIN PROTEIN; SHOX PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BODY DYSMORPHIC DISORDER; CHILD; CONTROLLED STUDY; CZECH REPUBLIC; DYSCHONDROSTEOSIS; FEMALE; GENE DELETION; GENE DUPLICATION; GENE LOCATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC DISORDER; GROWTH RETARDATION; HOMEOBOX; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPERTROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; REGULATORY SEQUENCE; SCHOOL CHILD; SHORT STATURE; SHORT STATURE HOMEOBOX CONTAINING GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FEMALE; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUSCULAR ATROPHY; MUTATION; OSTEOCHONDRODYSPLASIAS;

EID: 81455158397     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.10.011     Document Type: Article

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