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Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report

Mulibrey Nanism is a rare multisystem disorder inherited in an autosomal recessive manner caused by mutations in the TRIM37 gene. Most of the reported cases are from Finland, but this condition has rarely occurred in other countries. Although the clinical diagnosis of Mulibrey nanism is a challenge...

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Detalles Bibliográficos
Autores principales: Zeinaloo, Ali Akbar, Mirzaei Ilali, Hamidreza, Aghaei Moghadam, Ehsan, Khorram Khorshid, Hamid Reza, Esmaeilzadeh, Emran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874190/
https://www.ncbi.nlm.nih.gov/pubmed/36742244
http://dx.doi.org/10.18502/ijph.v51i12.11474