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A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy
BACKGROUND: Noonan syndrome is an autosomal dominant, variably expressed multisystem disorder characterized by specific facial and cardiac defects, delayed growth, ectodermal abnormalities, and lymphatic dysplasias. Lymphedema and chylous pleural effusions are common in Noonan syndrome, but protein-...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017519/ https://www.ncbi.nlm.nih.gov/pubmed/32054441 http://dx.doi.org/10.1186/s12876-020-01187-1 |