A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome

The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had...

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Detalles Bibliográficos
Autores principales: Ham, Joo Ho, Shin, Seok Joon, Joo, Kyu Re, Park, Sung Min, Sung, Hye Young, Kim, Joong Seok, Choi, Jin Soo, Choi, Yeong Jin, Song, Ho Cheol, Choi, Eui Jin
Formato: Texto
Lenguaje:English
Publicado: The Korean Association of Internal Medicine 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732789/
https://www.ncbi.nlm.nih.gov/pubmed/19721866
http://dx.doi.org/10.3904/kjim.2009.24.3.274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732789/
https://www.ncbi.nlm.nih.gov/pubmed/19721866
http://dx.doi.org/10.3904/kjim.2009.24.3.274

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