A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4
Author:
Funder
DST | Science and Engineering Research Board
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-0572-5.pdf
Reference12 articles.
1. Naiche LA, Harrelson Z, Kelly RG, et al. T-box genes in vertebrate development. Annu Rev Genet. 2005;39:219–39.
2. Gibson-Brown JJ, Agulnik SI, Chapman DL, Alexiou M, Garvey N, Silver LM, et al. Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity. Mech Dev. 1996;56:93–101.
3. Naiche LA, Papaioannou VE. Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois. Development. 2003;130:2681–93.
4. Tamura K, Yonei-Tamura S, Izpisúa Belmonte JC. Differential expression of Tbx4 and Tbx5 in Zebrafish fin buds. Mech Dev. 1999;87:181–4.
5. Horton AC, Mahadevan NR, Minguillon C, Osoegawa K, Rokhsar DS, Ruvinsky I, et al. Conservation of linkage and evolution of developmental function within the Tbx2/3/4/5 subfamily of T-box genes: implications for the origin of vertebrate limbs. Dev Genes Evol. 2008;218:613–28.
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