Diagnosis and treatment of MN1 C‐terminal truncation syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1965
Abstract: MN1 C‐terminal truncation (MCTT) is a rare syndrome; only 27 cases have been reported. We report the first case of an 8‐year‐old girl with MCTT syndrome complicated with moderate obstructive sleep apnea (OSA). read more here.
Keywords: diagnosis treatment; mn1 terminal; truncation syndrome; terminal truncation ... See more keywords
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0041-1728650
Abstract: Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndromes including craniofacial anomalies, such… read more here.
Keywords: mn1 gene; mn1 terminal; terminal truncation; craniofacial anomalies ... See more keywords