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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
Title: Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Authors: Coulie, Richard1, richard.coulie@uclouvain.be, Niyazov, Dmitriy M.2, Gambello, Michael J.3, Fastré, Elodie1, Brouillard, Pascal1, Vikkula, Miikka1,4, miikka.vikkula@uclouvain.be
Source: American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2153-2159, 7p
Database: Applied Science & Technology Source
Description
ISSN:15524825
DOI:10.1002/ajmg.a.62205