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Case report: dual diagnosis of Mulibrey nanism and Jacobs syndrome in an Indian boy

Abstract Background Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome caused by TRIM37 gene variants characterized by growth failure, dysmorphic features and congestive heart failure. We report a 6-year-old boy with Mulibrey nanism and Jacobs syndrome who was...

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Principais autores: Pritti Kumari, Rohina Aggarwal, Akshi Valodara, Hetvi Patel, Dipak Dhoriya, Ankita Suthar, Somesh Aggarwal
Formato: Artigo
Idioma:Inglês
Publicado em: SpringerOpen 2025-04-01
coleção:Egyptian Journal of Medical Human Genetics
Assuntos:
Mulibrey
Jacobs syndrome
Whole exome sequencing
Karyotype
Acesso em linha:https://doi.org/10.1186/s43042-025-00694-8
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