Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Isolated growth hormone deficiency type 1A

Isolated growth hormone deficiency type 1A is an autosomal recessive disorder caused severe mutations, large deletions for instance. Growth retardation and delayed bone maturation. Patient often develop antibodies when substituted by growth hormone.

Systematic

Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
Isolated growth hormone deficiency type 1A
GH1
Isolated growth hormone deficiency type 1B
Isolated growth hormone deficiency type 2
Isolated growth hormone deficiency type 3
Kowarski syndrome
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