Author

M. Ganapathi

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Case report Sep 2026

Concomitant PLACK Syndrome, MYBPC3-Related Cardiomyopathy, and Nutritional Deficiency.

PLACK syndrome is a rare genodermatosis that features peeling skin, leukonychia, acral punctal keratoses, cheilitis, and knuckle pads. We report a case of a 6-year-old female with PLACK syndrome, attributed to a homozygous variant in CAST, and concurrent dilated cardiomyopathy, explained by a heterozygous variant in MY...

Nisrine Kawa, T. LeWitt, Katharina W. Horn et al. · Pediatric dermatology · 0 citations

Open access Sep 2026

A homozygous missense variant in NRROS gene is associated with intracranial calcifications, neurodegeneration, and severe infantile epilepsy syndrome.

Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this conditio...

M. Ganapathi, Sean D. Fraser, Joseph Ryu et al. · HGG advances · 0 citations

Open access Jul 2026

Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder

The findings implicate DCLK1 in a previously unrecognized progressive neurodevelopmental disorder and demonstrate the power of integrative cross-species functional genomics in resolving ultra-rare disease variants.

David F. Butler, Wei-Xi Yuan, Hirokazu Hashimoto et al. · Research Square · 0 citations