Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition

Raymond Quigley; Jeffrey M. Saland

doi:10.1016/j.kint.2016.07.031

Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition

Raymond Quigley, Jeffrey M. Saland

Research output: Contribution to journal › Comment/debate › peer-review

9 Scopus citations

Abstract

The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.

Original language	English (US)
Pages (from-to)	721-723
Number of pages	3
Journal	Kidney international
Volume	90
Issue number	4
DOIs	https://doi.org/10.1016/j.kint.2016.07.031
State	Published - Oct 1 2016

ASJC Scopus subject areas

Nephrology

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10.1016/j.kint.2016.07.031

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abstract = "The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.",

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AB - The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.

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Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition

Abstract

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