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Familial hypocalciuric hypercalcemia type 3

Familial hypocalciuric hypercalcemia type 3 is an autosomal dominant disorder caused by mutations of the AP2S1 gene.

Systematic

Inherited disorders of calcium balance
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
AP2S1
Familial tumoral calcinosis
Hypophosphatasia
Infantile hypercalcemia

References:

1.

Bell R et al. (2001) Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

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2.

Erickson RP et al. (2001) Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

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3.

McLean RH et al. (1980) Familial partial deficiency of the third component of complement (C3) and the hypocomplementemic cutaneous vasculitis syndrome.

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4.

Raum D et al. (1979) Genetic control of the eighth component of complement.

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5.

Kyritsis AP et al. (1994) Germline p53 gene mutations in subsets of glioma patients.

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6.

Karlbom AE et al. (1993) Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10.

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7.

OMIM.ORG article

Omim 610984 external link
Update: Aug. 14, 2020
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