Clinico-Genetic Study of Nail-Patella Syndrome

Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma. NPS is caused by loss-of-function mutations in the LMX1B gene. In this study, phen...

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Detalles Bibliográficos
Autores principales: Lee, Beom Hee, Cho, Tae-Joon, Choi, Hyun Jin, Kang, Hee Kyung, Lim, In Seok, Park, Yong-Hoon, Ha, Il Soo, Choi, Yong, Cheong, Hae Il
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633198/
https://www.ncbi.nlm.nih.gov/pubmed/19194568
http://dx.doi.org/10.3346/jkms.2009.24.S1.S82

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633198/
https://www.ncbi.nlm.nih.gov/pubmed/19194568
http://dx.doi.org/10.3346/jkms.2009.24.S1.S82

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