Article

Constitutional Mosaicism in <em>RASA1</em>-Related Capillary Malformation-Arteriovenous Malformation (CM-AVM)

2018-10-10

Abstract excerpt

<h4>Introduction: </h4> Capillary malformation-arteriovenous malformation (CM-AVM; MIM#608354) is caused by germline RASA1 and EPHB4 alterations. RASA1 intralesional second hits have also been reported. Constitutional mosaicism, defined as the presence of a mosaic variant in all cell types of an individual, is detected in clinical practice as mosaic variants in multiple tested samples from one individual or as mos...

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Literature Corpus work: e0ffd0ee-a71f-5e2f-b11b-8e27ce572589
DOI: 10.20944/preprints201810.0220.v1

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