A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis
Sign Up to like & getrecommendations! Published in 2017 at "Brain and Development"
DOI: 10.1016/j.braindev.2016.09.002
Abstract: Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report… read more here.
Keywords: facial paresis; congenital facial; hoxb1; turkish family ... See more keywords
Familial Chiari Type 1: A Molecular Karyotyping Study in a Turkish Family and Review of the Literature.
Sign Up to like & getrecommendations! Published in 2019 at "World neurosurgery"
DOI: 10.1016/j.wneu.2018.09.235
Abstract: BACKGROUND The etiology of Chiari I malformation (CMI) has not been fully elucidated. Therefore, we performed a genetic study of a Turkish family in which 3 sisters had a diagnosis of CMI with or without… read more here.
Keywords: etiology; study turkish; family; turkish family ... See more keywords
A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
Sign Up to like & getrecommendations! Published in 2022 at "Human reproduction"
DOI: 10.1093/humrep/deac259
Abstract: STUDY QUESTION Can the analysis of a large Turkish consanguineous family via whole exome sequencing (WES) identify novel causative genetic variation responsible for nonobstructive azoospermia (NOA) characterized by arrest at primary spermatocyte stage? SUMMARY ANSWER… read more here.
Keywords: turkish family; family; variant; hormad1 ... See more keywords