Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S.
Nat Commun. 2023 Mar 17;14(1):1475. doi: 10.1038/s41467-023-37057-z.
Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development.
Klar AJ.
Philos Trans R Soc Lond B Biol Sci. 2016 Dec 19;371(1710):20150415. doi: 10.1098/rstb.2015.0415.
De novo pericentric inversion of chromosome 9 in congenital anomaly.
Jeong SY, Kim BY, Yu JE.
Yonsei Med J. 2010 Sep;51(5):775-80. doi: 10.3349/ymj.2010.51.5.775.
History of club-foot treatment; part II: tenotomy in the nineteenth century.
Hernigou P, Gravina N, Potage D, Dubory A.
Int Orthop. 2017 Oct;41(10):2205-2212. doi: 10.1007/s00264-017-3578-z. Epub 2017 Jul 22.
Kinematic differences in the presentation of recurrent congenital talipes equinovarus (clubfoot).
Brierty A, Horan S, Giacomozzi C, Johnson L, Bade D, Carty CP.
Gait Posture. 2022 Jul;96:195-202. doi: 10.1016/j.gaitpost.2022.05.016. Epub 2022 May 27.
Lateral foot pain due to os vesalianum pedis in a young football player; a case report and review of the current literature.
Aykanat F, Vincenten C, Cankus MC, Kose O, Sindel M.
Skeletal Radiol. 2019 Nov;48(11):1821-1828. doi: 10.1007/s00256-019-03190-4. Epub 2019 Feb 27.
Cleft palate and complex chromosome rearrangements.
Kousseff BG, Papenhausen P, Neu RL, Essig YP, Saraceno CA.
Clin Genet. 1992 Sep;42(3):135-42. doi: 10.1111/j.1399-0004.1992.tb03225.x.
Phenotypic subregions within the split-hand/foot malformation 1 locus.
Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND.
Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2.
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA, et al.
Am J Hum Genet. 1994 Jul;55(1):12-20.
The fickle finger of fate.
de la Fuente L, Helms JA.
J Clin Invest. 2005 Apr;115(4):833-6. doi: 10.1172/JCI24840.
