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Article

The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung

1 Aug 2019

Abstract excerpt

Since the discovery of the TBX4 gene, the phenotypical spectrum of human TBX4 mutations is rapidly expanding from syndromes with skeletal dysplasia, to pulmonary hypertension to developmental lung diseases, all associated with disrupted organ developmenthttp://bit.ly/2MvYful

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PMID: 31439725
DOI: 10.1183/13993003.01504-2019

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