Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor

Michelle M. Jack; Monique L. Stone; Roderick Clifton-Bligh

doi:10.1515/JPEM.2009.22.6.561

Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor

Michelle M. Jack^*, Monique L. Stone, Roderick Clifton-Bligh

^*Corresponding author for this work

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

6 Citations (Scopus)

Abstract

Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.

Original language	English
Pages (from-to)	561-563
Number of pages	3
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	22
Issue number	6
DOIs	https://doi.org/10.1515/JPEM.2009.22.6.561
Publication status	Published - Jun 2009
Externally published	Yes

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10.1515/JPEM.2009.22.6.561

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@article{f6f21ac2ea0a4dc1b43cdd32b9329496,

title = "Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor",

abstract = "Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.",

author = "Jack, {Michelle M.} and Stone, {Monique L.} and Roderick Clifton-Bligh",

year = "2009",

month = jun,

doi = "10.1515/JPEM.2009.22.6.561",

language = "English",

volume = "22",

pages = "561--563",

journal = "Journal of Pediatric Endocrinology and Metabolism",

issn = "0334-018X",

publisher = "Walter de Gruyter GmbH",

number = "6",

}

TY - JOUR

T1 - Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor

AU - Jack, Michelle M.

AU - Stone, Monique L.

AU - Clifton-Bligh, Roderick

PY - 2009/6

Y1 - 2009/6

N2 - Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.

AB - Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.

UR - http://www.scopus.com/inward/record.url?scp=67651008974&partnerID=8YFLogxK

U2 - 10.1515/JPEM.2009.22.6.561

DO - 10.1515/JPEM.2009.22.6.561

M3 - Article

C2 - 19694204

AN - SCOPUS:67651008974

SN - 0334-018X

VL - 22

SP - 561

EP - 563

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

IS - 6

ER -

Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor

Abstract

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