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Noonan syndrome and related disorders: Alterations in growth and puberty
Noonan syndrome is a relatively common multiple malformation syndrome with characteristic facies, short stature and congenital heart disease, most commonly pulmonary stenosis (Noonan, Clin Pediatr, 33:548–555, 1994). Recently, a mutation in the PTPN11 gene (Tartaglia, Mehler, Goldberg, Zampino, Brun...
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| Formato: | Texto |
| Lenguaje: | English |
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Kluwer Academic Publishers-Plenum Publishers
2006
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1894828/ https://www.ncbi.nlm.nih.gov/pubmed/17177115 http://dx.doi.org/10.1007/s11154-006-9021-1 |