Novel ATTR #mutation https://t.co/LHeV99ZfE2 linked to hereditary ATTR #amyloidosis with #cardiomyopathy identified in a 65-year-old #Japanese #patient #HeartHealth #cardiology https://t.co/0Wbg4G7SRp
Novel MYH7 #mutation responsible for #hypertrophic #cardiomyopathy in #monozygotic twins, shows different clinical presentation and tissue characterization #cardiology #hearthealth https://t.co/3XLFqMAfYR
SZT2 https://t.co/yEHDeK38lt variant, being homozygous due to uniparental disomy, identified in a patient with a neurodevelopmental #disorder https://t.co/iisoFTq7CB
Novel GJB2 compound heterozygous #mutations https://t.co/pnytwK4FYL associated with non-syndromic #hearing #loss in a #Chinese family https://t.co/Ul9fhgpirC
Novel #homozygous CYP7B1 frameshift #mutation https://t.co/ECTjp3LiJL in a #Japanese #patient with SPG5 identified via #exome #sequencing #Neurology https://t.co/IxwJrRYU4K
Novel MYO6 mutation https://t.co/WgsaBosYfq identified via #exome sequencing in a #Chinese family with autosomal dominant non-syndromic #hearingloss https://t.co/javJACFDsi