Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

Human Genetics

Volumn 107, Issue 2, 2000, Pages 145-149

  Grigelioniene, Giedre ^a   Eklöf, Ole ^a   Ivarsson, Sten Anders ^b   Westphal, Otto ^c   Neumeyer, Lo ^a   Kedra, Darek ^a   Dumanski, Jan ^d   Hagenäs, Lars ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY   (Sweden)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^d UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 3;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DYSCHONDROSTEOSIS; FETUS; GENE DELETION; GENETIC ANALYSIS; GENETIC CODE; GENETIC HETEROGENEITY; HOMEOBOX; HUMAN; HYPOCHONDROPLASIA; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; SHORT STATURE;

EID: 0033813135     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000352     Document Type: Article

References (24)

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4. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
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6. Relationship between height, sitting height and subischial leg length in Dutch children: Presentation of normal values
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11. Hypochondroplasia. Review of 80 cases
12. SHOX: Pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis
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14. Comparison of clinical-radiological and molecular findings in hypochondroplasia
15. Genotype and phenotype in hypochondroplasia
16. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
17. Clinical and genetic heterogeneity of hypochondroplasia
18. Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
19. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
20. Physical growth and development
21. Standards from birth to maturity for height, weight, height velocity and weight velocity: British children 1965. Part II
22. Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis