Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Aerospace Engineering
Reference27 articles.
1. Gene Cards. Gene - myosin heavy chain 11. (2023). Accessed. 11 August 2023: https://www.genecards.org/cgi-bin/carddisp.pl?gene=MYH11.
2. Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia;Clarke S;Cancer Genet,2022
3. Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rare MYH11 mutation: a case report;Li N;World J Clin Cases,2022
4. Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family;Wang Q;J Hum Genet,2019
5. Newly described recessive MYH11 disorder with clinical overlap of multisystemic smooth muscle dysfunction and megacystis microcolon hypoperistalsis syndromes;Yetman AT;Am J Med Genet A,2018
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