PMC Links for Protein (Select 28893581) - PMC

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Items: 3

Select item 60949401.

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

Isabelle Schrauwen, Imen Chakchouk, Khurram Liaqat, Abid Jan, Abdul Nasir, Shabir Hussain, Deborah A. Nickerson, Michael J. Bamshad, Asmat Ullah, Wasim Ahmad, Suzanne M. Leal

Hum Genet. Author manuscript; available in PMC 2018 Aug 16.

Published in final edited form as: Hum Genet. 2018 Jul; 137(6-7): 471–478. Published online 2018 Jul 3. doi: 10.1007/s00439-018-1899-7

PMCID:: PMC6094940

Abstract Article PDF–764K

Select item 59739592.

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

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

Hum Genet. 2018; 137(5): 389–400. Published online 2018 May 12. doi: 10.1007/s00439-018-1880-5