Growth hormone insensitivity with immunodeficiency is an autosomal recessive disorder caused by loss-of-function mutations of the STAT5B gene.
| 1. |
Kofoed EM et al. (2003) Growth hormone insensitivity associated with a STAT5b mutation.
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| 2. |
Hwa V et al. (2005) Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.
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| 3. |
Vidarsdottir S et al. (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
|
| 4. |
Cohen AC et al. (2006) Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency.
|
| 5. |
Bernasconi A et al. (2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
|
| 6. |
Hwa V et al. (2007) Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
|
| 7. |
Laron Z et al. () Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?
|
| 8. |
Buchanan CR et al. (1991) Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein.
|
| 9. |
Laron Z et al. (1993) Laron syndrome due to a post-receptor defect: response to IGF-I treatment.
|
| 10. |
Freeth JS et al. (1997) Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome.
|
| 11. |
OMIM.ORG article Omim 245590
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