Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Isolated growth hormone deficiency type 3

Isolated growth hormone deficiency type 3 is an x-linked recessive disorder characterized by growth retardation, delayed bone maturation, and an immunodeficiency.

Systematic

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

References:

1.

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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2.

Monafo V et al. (1991) X-linked agammaglobulinemia and isolated growth hormone deficiency.

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3.

Conley ME et al. (1991) Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency.

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4.

Sitz KV et al. (1990) Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity.

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5.

Fleisher TA et al. (1980) X-linked hypogammaglobulinemia and isolated growth hormone deficiency.

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6.

Orphanet article

Orphanet ID 183669 [^]
7.

OMIM.ORG article

Omim 307200 [^]
Update: May 9, 2019