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Author

Eduardo Esparza-García

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2 papers indexed here

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Open access Oct 2026

Expanding the Clinical and Molecular Spectrum of Cartilage-Hair Hypoplasia in the Mexican Population

Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia caused by variants in RMRP (RNA component of mitochondrial RNA processing endoribonuclease), which encodes a non-coding RNA. Despite its well-established clinical and molecular spectrum in some populations, data from Mexico remain limited....

Kiabeth Robles-Espinoza, Eduardo Esparza-García, J. Corona-Rivera et al. · 0 citations

Global Medical Genetics

This case underscores the clinical relevance of whole-exome sequencing in patients with overlapping syndromic features and supports a possible founder effect in this population of Mexican ancestry.

Emmanuel Rojas-Morales, Eduardo Esparza-García, T. Magaña-Torres · 0 citations

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