@article{16331196052e45df81beb92563a63059,
title = "Mutation analysis of LMX1B gene in Nail-patella syndrome patients",
abstract = "Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.",
author = "Iain McIntosh and Dreyer, {Sandra D.} and Clough, {Mark V.} and Dunston, {Jennifer A.} and Eyaid, {Waf A.a.} and Roig, {Carmen M.} and Tara Montgomery and Sirpa Ala-Mello and Ilkka Kaitila and Andreas Winterpacht and Bernhard Zabel and Moshe Frydman and Cole, {William G.} and Francomano, {Clair A.} and Brendan Lee",
note = "Funding Information: The authors wish to thank NPS family members for taking part in this study. This work was supported, in part, by National Institutes of Health grants AR44702 (to I.M.) and AR44738 (to B.L.) and NIGMS Pre-Doctoral Training Grant GM07814 and by funds from the March of Dimes Birth Defects Foundation (to B.L.), the Arthritis Foundation (to B.L.), the Baylor College of Medicine Child Health Research Center (to B.L.), Deutsche Forschungsgemeinschaft (to S.D.D., A.W., and B.Z.), King Fahad Hospital, Health Affairs, Saudi Arabia (to W.E.), and the Division of Intramural Research, NHGRI. ",
year = "1998",
doi = "10.1086/302165",
language = "English (US)",
volume = "63",
pages = "1651--1658",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "6",
}