Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Patient informs himself in diagnostic booklet

Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Patient informs himself in diagnostic booklet

A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort