A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity

Fedah E. Mohamed, Mohammad Al Sorkhy, Mohammad A. Ghattas, Nuha Al-Zaabi, Aisha Al-Shamsi, Taleb M. Almansoori, Lihadh Al-Gazali, Osama Y. Al-Dirbashi, Fatma Al-Jasmi, Bassam R. Ali

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Medicine & Life Sciences