Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das Kowarski-Syndrom ist durch biologisch inaktives Wachstumshormon gekennzeichnet. Ursache sind Mutationen des GH-Gens. Eine Substitutionstherapie bringt sicheren Erfolg.
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Takahashi Y et al. (1996) Brief report: short stature caused by a mutant growth hormone. 
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| 2. |
Besson A et al. (2005) Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
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Takahashi Y et al. (1997) Biologically inactive growth hormone caused by an amino acid substitution.
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Kowarski AA et al. (1978) Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH.
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| 5. |
Valenta LJ et al. (1985) Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers.
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Bright GM et al. (1983) Short stature associated with normal growth hormone and decreased somatomedin-C concentrations: response to exogenous growth hormone.
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Orphanet article Orphanet ID 629
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OMIM.ORG article Omim 262650
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| 9. |
Wikipedia Artikel Wikipedia DE (Kowarski-Syndrom)
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