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Article

A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.

BMC gastroenterology - 13 Feb 2020

Wang Na, Shi Wen, Jiao Yang

Abstract excerpt

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-losing enteropathy (PLE) has only rarely been described in the condition and little is known about its genetic...

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Identifiers

PMID: 32054441
DOI: 10.1186/s12876-020-01187-1
PMCID: PMC7017519

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