A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy
Abstract 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...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2020-02-01
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| Col·lecció: | BMC Gastroenterology |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s12876-020-01187-1 |
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