Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021, Vol.185 (7), p.2153-2159
Main Authors: Coulie, Richard, Niyazov, Dmitriy M, Gambello, Michael J, Fastré, Elodie, Brouillard, Pascal, Vikkula, Miikka
Format: Report
Language:English
Online Access:Get full text
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ISSN:1552-4833
DOI:10.1002/ajmg.a.62205