Molecular studies of achondroplasia

BACKGROUND: Achondroplasia (ACH) is the most frequent form of short-limbed dwarfism, caused by mutations in the FGFR3 gene. It follows an autosomal dominant inheritance, though most cases are sporadic. The molecular techniques are the only available methods to confirm the diagnosis of a skeletal dys...

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Detalles Bibliográficos
Autores principales: Nahar, Risha, Saxena, Renu, Kohli, Sudha, Puri, Ratna, Verma, Ishwar Chandra
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2762264/
https://www.ncbi.nlm.nih.gov/pubmed/19838370
http://dx.doi.org/10.4103/0019-5413.50856

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2762264/
https://www.ncbi.nlm.nih.gov/pubmed/19838370
http://dx.doi.org/10.4103/0019-5413.50856

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