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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| Title: | 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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| 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 |
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