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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Muggenthaler MM, et al. Among authors: behr er. PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28081210 Free PMC article.
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.
Muggenthaler M, Petropoulou E, Omer S, Simpson MA, Sahak H, Rice A, Raju H, Conti FJ, Bridges LR, Anderson LJ, Sharma S, Behr ER, Jamshidi Y. Muggenthaler M, et al. Among authors: behr er. Int J Cardiol. 2016 May 1;210:41-4. doi: 10.1016/j.ijcard.2016.02.082. Epub 2016 Feb 13. Int J Cardiol. 2016. PMID: 26922712 Free article. No abstract available.
285 results