A new mutation in the C-SH2 domain of PTPN11 causes Noonan...

Journal of Human Genetics 2014 / 1 Vol. 59; Iss. 1

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions

Carapito, Raphael, Paul, Nicodème, Untrau, Meiggie, Ott, Louise, Corradini, Nadège, Poignant, Sylvaine, Geffroy, Loïc, Caldagues, Emmanuelle, Heymann, Marie-Françoise, Cassagnau, Elisabeth, Isidor, Be
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Volume:
59
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2013.118
Date:
January, 2014
File:
PDF, 741 KB
english, 2014
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