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Hypercalciuric hypocalcemia 2

Hypocalcemia 2 is an autosomal dominant disorder caused by activating mutations of the GNA11 gene.


Bartter syndrome
Antenatal Bartter syndrome type 1
Antenatal Bartter syndrome type 2
Classic Bartter syndrome
Hypercalciuric hypocalcemia 1
Hypercalciuric hypocalcemia 2
Infantile Bartter syndrome with deafness type 4
Transient antenatal Bartter syndrome



Heath H et al. (1992) Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.

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Wilkie TM et al. (1992) Evolution of the mammalian G protein alpha subunit multigene family.

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Van Raamsdonk CD et al. (2004) Effects of G-protein mutations on skin color.

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Kero J et al. (2007) Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development.

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Wirth A et al. (2008) G12-G13-LARG-mediated signaling in vascular smooth muscle is required for salt-induced hypertension.

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Jiang M et al. (1991) Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells.

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Strathmann MP et al. (1991) G alpha 12 and G alpha 13 subunits define a fourth class of G protein alpha subunits.

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Van Raamsdonk CD et al. (2010) Mutations in GNA11 in uveal melanoma.

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Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

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Mannstadt M et al. (2013) Germline mutations affecting Gα11 in hypoparathyroidism.

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Davignon I et al. (1996) Gene structure of murine Gna11 and Gna15: tandemly duplicated Gq class G protein alpha subunit genes.

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Offermanns S et al. (1998) Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice.

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OMIM.ORG article

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Update: Aug. 14, 2020
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