Short stature caused by isolated SHOX gene haploinsufficiency: Update on the diagnosis and treatment

Pediatric Endocrinology Reviews

Volumn 8, Issue 2, 2010, Pages 79-85

  Funari, Mariana F A ^a   Nishi, Mirian Y ^a   Arnhold, Ivo J P ^a   Mendonca, Berenice B ^a   Jorge, Alexander A L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Diagnosis; Genetic; Growth hormone therapy; Idiopathic short stature; Leri Weill dyschondrosteosis; SHOX gene; Skeletal dysplasia

Indexed keywords

GONADORELIN DERIVATIVE; HUMAN GROWTH HORMONE;

CLINICAL EVALUATION; CLINICAL TRIAL; DYSCHONDROSTEOSIS; GENE; GENE DELETION; GENE MUTATION; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; REVIEW; SHORT STATURE; SHOX GENE;

BODY HEIGHT; GROWTH DISORDERS; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS;

EID: 78650410581     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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