Update on the Genetics of Congenital Myopathies.
Sign Up to like & getrecommendations! Published in 2019 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2019.01.005
Abstract: The congenital myopathies form a large clinically and genetically heterogeneous group of disorders. Currently mutations in at least 27 different genes have been reported to cause a congenital myopathy, but the number is expected to… read more here.
Keywords: phenotype; congenital myopathies; genetics congenital; genetics ... See more keywords
Genetics of congenital olfactory dysfunction: a systematic review of the literature.
Sign Up to like & getrecommendations! Published in 2022 at "Chemical senses"
DOI: 10.1093/chemse/bjac028
Abstract: Olfaction, as one of our 5 senses, plays an important role in our daily lives. It is connected to proper nutrition, social interaction, and protection mechanisms. Disorders affecting this sense consequently also affect the patients'… read more here.
Keywords: systematic review; genetics congenital; cod; congenital olfactory ... See more keywords
Advances in the genetics of congenital ptosis.
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic research"
DOI: 10.1159/000521575
Abstract: Congenital ptosis, a birth defects presents at birth or by 1 year of age, is characterized by the drooping of the upper eyelid. either in isolation (non-syndromic) or with many different systemic disorders (syndromic). The… read more here.
Keywords: advances genetics; congenital ptosis; genetics congenital; ptosis ... See more keywords