Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome
Author:
Affiliation:
1. Unidad de Investigacion, Hospital Nuestra Señora de Candelaria
2. Servicio de Rehabilitación, Hospital Nuestra Señora de Candelaria
3. Servicio de Pediatría, Hospital Nuestra Señora de Candelaria
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/8/1/8_2018.01131/_pdf
Reference27 articles.
1. 1. Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017; 469:927-936.
2. 2. Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005; 13:935-946.
3. 3. Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A, Figeac M, Porchet N, Manouvrier-Hanu S, Escande F. Nail-Patella Syndrome: Clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016; 24:44-50.
4. 4. Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M. Spectrum of LMX1B mutations: From nail-patella syndrome to isolated nephropathy. Pediatr Nephrol. 2017; 32:1845-1850.
5. 5. Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA. Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: Tissue-specific expression and linkage mapping on chromosome 9.Genomics. 1997; 15:520-524.
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1. Identification of a Novel Missense Mutation in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese Family;2024-03-14
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