A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome
Joo Ho Ham, Seok Joon Shin, Kyu Re Joo, Sung Min Park, Hye Young Sung, Joong Seok Kim, Jin Soo Choi, Yeong Jin Choi, Ho Cheol Song, Eui Jin Choi
Korean J Intern Med. 2009;24(3):274-278. Published online August 26, 2009
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 p..
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