Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a

M.A. Nesbit; F.M. Hannan; U. Graham; M.P. Whyte; Patrick Morrison; S.J. Hunter; R.V. Thakker

doi:10.1210/jc.2009-2152

Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a

M.A. Nesbit, F.M. Hannan, U. Graham, M.P. Whyte, Patrick Morrison, S.J. Hunter, R.V. Thakker

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

30 Citations (Scopus)

Abstract

Context: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations are 3q21.1, 19p, and 19q13, respectively. FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown.

Original language	English
Pages (from-to)	1947-1954
Number of pages	8
Journal	The Journal of clinical endocrinology and metabolism
Volume	95
Issue number	4
DOIs	https://doi.org/10.1210/jc.2009-2152
Publication status	Published - Apr 2010

ASJC Scopus subject areas

Biochemistry
Clinical Biochemistry
Endocrinology
General Medicine
Biochemistry, medical
Endocrinology, Diabetes and Metabolism

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1210/jc.2009-2152

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title = "Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a",

abstract = "Context: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations are 3q21.1, 19p, and 19q13, respectively. FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown.",

author = "M.A. Nesbit and F.M. Hannan and U. Graham and M.P. Whyte and Patrick Morrison and S.J. Hunter and R.V. Thakker",

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AU - Nesbit, M.A.

AU - Hannan, F.M.

AU - Graham, U.

AU - Whyte, M.P.

AU - Morrison, Patrick

AU - Hunter, S.J.

AU - Thakker, R.V.

PY - 2010/4

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N2 - Context: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations are 3q21.1, 19p, and 19q13, respectively. FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown.

AB - Context: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations are 3q21.1, 19p, and 19q13, respectively. FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown.

U2 - 10.1210/jc.2009-2152

DO - 10.1210/jc.2009-2152

M3 - Article

SN - 1945-7197

VL - 95

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JO - The Journal of clinical endocrinology and metabolism

JF - The Journal of clinical endocrinology and metabolism

IS - 4

ER -

Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a

Abstract

ASJC Scopus subject areas

UN SDGs

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