Osteopetrosis

By Paula, Portugal, January 20, 2014

I want to say more about Osteopetrose - this is the result of the genetic study of my son "Molecular study of CLCN7 gene (performed in Service Biochimie et Biologie of moléculaire, Lariboisière Hopital, Paris, France) identified the variant unclassified c.1798-14C> A in homozygosity in intron 19 of the gene. This sequence variation is not described in the literature, however, its analysis by predicting the protein functional effect on the programs that will likely indicate pathogenic." doctors do not know what to do. Rui Pedro has a very large muscular atrophy, with no explanation. I don't know what to do. Plese help me. Best, Paula Carvalho

 

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