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
Format:	Artigo
Jezik:	Inglês
Izdano:	SpringerOpen 2025-04-01
Serija:	Egyptian Journal of Medical Human Genetics
Teme:	Mulibrey Jacobs syndrome Whole exome sequencing Karyotype
Online dostop:	https://doi.org/10.1186/s43042-025-00694-8
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