Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Isolated growth hormone deficiency type 3 is an x-linked recessive disorder characterized by growth retardation, delayed bone maturation, and an immunodeficiency.
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Duriez B et al. (1994) An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. 
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Monafo V et al. (1991) X-linked agammaglobulinemia and isolated growth hormone deficiency.
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Conley ME et al. (1991) Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency.
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Sitz KV et al. (1990) Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity.
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Fleisher TA et al. (1980) X-linked hypogammaglobulinemia and isolated growth hormone deficiency.
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Orphanet article Orphanet ID 183669
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OMIM.ORG article Omim 307200
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