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Author

Brendan C. Lanpher

2 papers indexed here

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Sep 2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

Brain-specific serine/threonine kinase (BRSK1; synapses of amphids defective [SAD]-B) encodes an AMP-activated protein kinase (AMPK)-related serine/threonine kinase required for neuronal polarization and synaptic function. An individual with a variant in BRSK1 was identified in the Texome Project, which provides genomi...

Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al. · 0 citations
Review Aug 2026

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by clinical and genetic heterogeneity. Data on the prevalence of clinical manifestations and comorbidities in BBS, particularly in pediatric patients, are limited. This study aimed to assess the prevalence and various manifestations of end...

Doha Hassan, Mostafa Salama, Kalpana Muthusamy et al. · 0 citations

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