A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report

Pathogenic variants affecting the BLM gene are responsible for the manifestation of extremely rare cancer-predisposing Bloom syndrome. The present study reports on a case of an infant with a congenital hypotrophy, short stature and abnormal facial appearance. Initially she was examined using a routi...

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Detalles Bibliográficos
Autores principales: Wayhelova, Marketa, Vallova, Vladimira, Broz, Petr, Mikulasova, Aneta, Machackova, Dominika, Filkova, Hana Dynkova, Smetana, Jan, Takacsova, Alena, Gaillyova, Renata, Kuglik, Petr
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119849/
https://www.ncbi.nlm.nih.gov/pubmed/37052241
http://dx.doi.org/10.3892/mmr.2023.12997

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