Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107007
Abstract: Background Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes are currently listed in the OMIM classification: hereditary sensory and autonomic neuropathy type 2… read more here.
Keywords: heterozygous kif1a; spectrum; variants underlie; underlie wide ... See more keywords
BMPR2 Variants Underlie Nonsyndromic Oligodontia
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24021648
Abstract: Oligodontia manifests as a congenital reduction in the number of permanent teeth. Despite the major efforts that have been made, the genetic etiology of oligodontia remains largely unknown. Bone morphogenetic protein receptor type 2 (BMPR2)… read more here.
Keywords: variants underlie; nonsyndromic oligodontia; underlie nonsyndromic; bmpr2 variants ... See more keywords