The jumping SHOX gene - Crossover in the pseudoautosomal region resulting in unusual inheritance of leri-weill dyschondrosteosis

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 2, 2011, Pages

  Kant, Sarina G ^a   Van Der Kamp, Hetty J ^a   Kriek, Marjolein ^a   Bakker, Egbert ^a   Bakker, Boudewijn ^a   Hoffer, Mariette J V ^a   Van Bunderen, Patrick ^a   Losekoot, Monique ^a   Maas, Saskia M ^b   Wit, Jan M ^a   Rappold, Gudrun ^c   Breuning, Martijn H ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; HOMEODOMAIN PROTEIN; SHORT STATURE HOMEOBOX PROTEIN; TRIPTORELIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOME; BODY HEIGHT; CHILD; CLINICAL ARTICLE; CROSSING OVER; DYSCHONDROSTEOSIS; DYSPLASIA; FAMILY ASSESSMENT; FEMALE; GENE DELETION; GENE SEGREGATION; GENE TRANSFER; HORMONAL THERAPY; HUMAN; LANGER MESOMELIC DYSPLASIA; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEX CHROMOSOME; SHORT STATURE; X CHROMOSOME; Y CHROMOSOME;

ADULT; ARM; BODY HEIGHT; CHILD; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; EXONS; FAMILY; FEMALE; GROWTH DISORDERS; HAND; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERSPERSED REPETITIVE SEQUENCES; KARYOTYPING; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PREGNANCY; WRIST;

EID: 79951686632     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1505     Document Type: Article

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