Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Case Reports in Ophthalmology"
DOI: 10.1159/000506435
Abstract: Meesmann epithelial corneal dystrophy (MECD) is a rare dominantly inherited disorder that is characterized by corneal epithelial microcysts and is associated with mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes. In this… read more here.
Keywords: vietnamese family; corneal dystrophy; family; krt12 ... See more keywords
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-0962-0
Abstract: Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular fossa, known as “molar tooth sign”… read more here.
Keywords: joubert syndrome; family joubert; tmem67; vietnamese family ... See more keywords