From gene to disease; from SHOX to Léri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature;Van gen naar ziekte; van SHOX naar Léri-Weill-dyschondrosteosis, Turner-syndroom en idiopathische kleine gestalte

Nederlands Tijdschrift voor Geneeskunde

Volumn 145, Issue 30, 2001, Pages 1456-1458

  Kant, S G ^a   Drop, S L S ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

BONE DYSPLASIA; DELETION MUTANT; DYSCHONDROSTEOSIS; FETUS DEVELOPMENT; GENE LOCATION; GENE MUTATION; HOMEOBOX; SHORT STATURE; SHORT SURVEY; SKELETON MALFORMATION; TURNER SYNDROME; X CHROMOSOME; Y CHROMOSOME;

CHILD; FEMALE; GENES, HOMEOBOX; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; SYNDROME; TURNER SYNDROME; X CHROMOSOME;

EID: 0035963930     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Short Survey

References (11)

1. Une affection congénitale et symmétrique du evelopment osseux: La dyschondrostéose
2. Mesomelic dysplasia, type Langer - A homozygous state for dyschondrosteosis
3. PHOG, a candidate gene for involvement in the short stature of Turner syndrome
4. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
5. SHOX: Growth, Leri-Weill and Turner syndromes
6. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
7. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
8. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
9. Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
10. Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial
11. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone