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PubMed for id: 902464

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Page 1
PLACK syndrome is potentially treatable with intralipids.
Sawan ZA, Almehaidib A, Binamer Y, Monies D, Alsaleem KA, Aldekhail W, Alkuraya FS, Abanemai M. Sawan ZA, et al. Clin Genet. 2021 Apr;99(4):572-576. doi: 10.1111/cge.13919. Epub 2021 Jan 20. Clin Genet. 2021. PMID: 33410500
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP, Yakıcıer MC. Temel ŞG, et al. Cell Tissue Res. 2019 Nov;378(2):267-277. doi: 10.1007/s00441-019-03077-9. Epub 2019 Aug 7. Cell Tissue Res. 2019. PMID: 31392520
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
28 results