Author

Eva S. Kahn

Institution: Mayo Clinic

Observed institution: Mayo Clinic

OpenAlex ID: A5139780285

A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review

2026 · Jia W. Tan, Matheus Vernet Machado Bressan Wilke, et al. · Clinical Genetics

Works count: 1

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