A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings

European Journal of Endocrinology

Volumn 163, Issue 2, 2010, Pages 349-355

  Pugliese Pires, Patricia N ^a   Tonelli, Carlos A ^b   Dora, Jose M ^c   Silva, Paulo C A ^d   Czepielewski, Mauro ^c   Simoni, Genoir ^d   Arnhold, Ivo J P ^a   Jorge, Alexander A L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSIDADE DO EXTREMO SUL CATARINENSE   (Brazil)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^d HOSPITAL INFANTIL JOANA DE GUSMÃO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; PROLACTIN; RECOMBINANT GROWTH HORMONE; RECOMBINANT SOMATOMEDIN C; STAT5B PROTEIN;

ARTICLE; ATOPIC DERMATITIS; CASE REPORT; CHILD; CLINICAL FEATURE; DRUG MEGADOSE; GENE MUTATION; GENETIC DISORDER; GROWTH HORMONE INSENSITIVITY; HUMAN; HYPERPROLACTINEMIA; IMMUNE DEFICIENCY; INTERSTITIAL LUNG DISEASE; LYMPHOCYTOPENIA; MALE; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING; THROMBOCYTOPENIC PURPURA;

ADULT; CHILD; CHILD, PRESCHOOL; GROWTH DISORDERS; HUMANS; HYPERPROLACTINEMIA; IMMUNE SYSTEM DISEASES; INSULIN-LIKE GROWTH FACTOR I; MALE; MUTATION; RECOMBINANT PROTEINS; SIBLINGS; STAT5 TRANSCRIPTION FACTOR;

EID: 77955375101     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0272     Document Type: Article

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