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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet. 2021 Jun 3;108(6):1095-1114. doi: 10.1016/j.ajhg.2021.04.016. Epub 2021 May 14.
Am J Hum Genet. 2021.
PMID: 33991472
Free PMC article.
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Verlee M, Beyens A, Gezdirici A, Gulec EY, Pottie L, De Feyter S, Vanhooydonck M, Tapaneeyaphan P, Symoens S, Callewaert B.
Verlee M, et al. Among authors: tapaneeyaphan p.
Genes (Basel). 2021 Mar 31;12(4):510. doi: 10.3390/genes12040510.
Genes (Basel). 2021.
PMID: 33807164
Free PMC article.
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B.
Pottie L, et al. Among authors: tapaneeyaphan p.
Am J Hum Genet. 2021 Dec 2;108(12):2386-2388. doi: 10.1016/j.ajhg.2021.11.009.
Am J Hum Genet. 2021.
PMID: 34861177
Free PMC article.
No abstract available.
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New insights on the clinical variability of FKBP10 mutations.
Essawi OH, Tapaneeyaphan P, Symoens S, Gistelinck C C, Malfait F, Eyre DR, Essawi T, Callewaert B, Coucke PJ.
Essawi OH, et al. Among authors: tapaneeyaphan p.
Eur J Med Genet. 2020 Sep;63(9):103980. doi: 10.1016/j.ejmg.2020.103980. Epub 2020 Jun 9.
Eur J Med Genet. 2020.
PMID: 32531462
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Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
Guillemyn B, De Saffel H, Bek JW, Tapaneeyaphan P, De Clercq A, Jarayseh T, Debaenst S, Willaert A, De Rycke R, Byers PH, Rosseel T, Coucke P, Blaumeiser B, Syx D, Malfait F, Symoens S.
Guillemyn B, et al. Among authors: tapaneeyaphan p.
J Bone Miner Res. 2023 Nov;38(11):1718-1730. doi: 10.1002/jbmr.4914. Epub 2023 Sep 30.
J Bone Miner Res. 2023.
PMID: 37718532
Free article.
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