Literature DB >> 12567423

New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?

Daniele De Brasi, Nicola Brunetti-Pierri, Pasqua Di Micco, Generoso Andria, Gianfranco Sebastio.   

Abstract

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Year:  2003        PMID： 12567423     DOI： 10.1002/ajmg.a.10936

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

Authors:  Andrea Masotti; Paolo Uva; Laura Davis-Keppen; Lina Basel-Vanagaite; Lior Cohen; Elisa Pisaneschi; Antonella Celluzzi; Paola Bencivenga; Mingyan Fang; Mingyu Tian; Xun Xu; Marco Cappa; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2015-01-22       Impact factor: 11.025

2.  Conduction through a narrow inward-rectifier K+ channel pore.

Authors:  Harald Bernsteiner; Eva-Maria Zangerl-Plessl; Xingyu Chen; Anna Stary-Weinzinger
Journal:  J Gen Physiol       Date:  2019-09-11       Impact factor: 4.000
  2 in total

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