Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction-Reference-Cited by-同舟云学术

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Published:2018-05 Issue:5 Volume:137 Page:389-400
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Wesdorp Mieke, ,de Koning Gans Pia A. M.,Schraders Margit,Oostrik Jaap,Huynen Martijn A.,Venselaar Hanka,Beynon Andy J.,van Gaalen Judith,Piai Vitória,Voermans Nicol,van Rossum Michelle M.,Hartel Bas P.,Lelieveld Stefan H.,Wiel Laurens,Verbist Berit,Rotteveel Liselotte J.,van Dooren Marieke F.,Lichtner Peter,Kunst Henricus P. M.,Feenstra Ilse,Admiraal Ronald J. C.,Yntema Helger G.,Hoefsloot Lies H.,Pennings Ronald J. E.,Kremer Hannie

Funder

Heinsius Houbolt Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-018-1880-5/fulltext.html

Reference42 articles.

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2. Bongers EM et al (2005) Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet EJHG 13:935–946. https://doi.org/10.1038/sj.ejhg.5201446

3. Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV (2008) Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet EJHG 16:1240–1244. https://doi.org/10.1038/ejhg.2008.83