Insights on 7p21 deletion including the TWIST1 gene: a case report of an adult patient with macroglossia and a literature review

Abstract Background This study presents an adult 7p21 deletion patient, including a literature review specific to 7p21 deletion, and concludes recommendations toward such patients. A 47-year-old male with moderate-to-severe learning disability and significant dysmorphic features was seen in our Medi...

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Bibliographic Details
Main Authors: Alp Peker, Özden Altıok Clark, Mert Coşkun, Ali Duru, Feyza Altunbaş Yalabık, Duygu Gamze Aracı, Aslı Toylu, Sezin Yakut Uzuner, Alper Tunga Derin, Ercan Mıhçı
Format: Article
Language:English
Published: SpringerOpen 2025-03-01
Series:Egyptian Journal of Medical Human Genetics
Online Access:https://doi.org/10.1186/s43042-025-00674-y
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