Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome

European Journal of Human Genetics

Volumn 8, Issue 1, 2000, Pages 54-62

  Schiller, Simone ^a   Spranger, Stephanie ^a   Schechinger, Birgit ^a   Fukami, Maki ^a   Merker, Sabine ^a   Drop, Stenvert L S ^b   Tröger, Jochen ^a   Knoblauch, Hans ^c   Kunze, Jürgen ^c   Seidel, Jörg ^d   Rappold, Gudrun A ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c HUMBOLDT UNIVERSITY   (Germany)

^d FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

Leri Weill syndrome; Madelung deformity; Short stature; SHOX; Turner syndrome

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; DNA SEQUENCE; DYSCHONDROSTEOSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; HOMEOBOX; HUMAN; MALE; MUSCLE HYPERTROPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; BODY HEIGHT; BONE AND BONES; CHILD; CHROMOSOME DELETION; DNA MUTATIONAL ANALYSIS; FEMALE; FOREARM; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION; SEX CHROMOSOMES; SYNDROME; VARIATION (GENETICS);

EID: 0033994671     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200402     Document Type: Article

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