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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...
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 |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
The Korean Association of Internal Medicine
2009
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Materias: | |
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 |
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