Phenotypes associated with SHOX deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 12, 2001, Pages 5674-5680

  Ross, J L ^a   Scott C , Jr ^a   Marttila, P ^a   Kowal, K ^a   Nass, A ^a   Papenhausen, P ^a   Abboudi, J ^a   Osterman, L ^a   Kushner, H ^a   Carter, P ^a   Ezaki, M ^a   Elder, F ^a   Wei, F ^a   Chen, H ^a   Zinn, A R ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN;

ADOLESCENT; ADULT; ARTICLE; BODY HEIGHT; CHILD; CONTROLLED STUDY; DYSCHONDROSTEOSIS; FEMALE; GENE DELETION; GENE MUTATION; HIGH ARCHED PALATE; HOMEOBOX; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; PUBERTY; SCOLIOSIS; SHORT STATURE; SHORT STATURE HOMEOBOX CONTAINING GENE; TURNER SYNDROME;

EID: 18044379322     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.86.12.8125     Document Type: Article

References (25)

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4. SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome
5. Leri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3
6. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
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14. Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations
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20. Effects of estrogen on growth plate senescence and epiphyseal fusion
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22. Dyschondrosteosis: Clinical study of a sixth generation family