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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-...

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Dades bibliogràfiques
Publicat a:BMC Gastroenterol
Autors principals: Wang, Na, Shi, Wen, Jiao, Yang
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7017519/
https://ncbi.nlm.nih.gov/pubmed/32054441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12876-020-01187-1
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