A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.322
Abstract: The CYP11A1 gene encodes the cytochrome P450 side‐chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss… read more here.
Keywords: cyp11a1 trans; variant cyp11a1; cyp11a1; splice site ... See more keywords
Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.05.013
Abstract: Dystrophinopathies are a group of X-linked neuromuscular disorders that result from pathogenic variants in the DMD gene. Their pathophysiological substrate is the defective expression of dystrophin in many tissues. While patients from the same pedigree… read more here.
Keywords: dmd; splice site; phenotypic; site variant ... See more keywords