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GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V. Genovesi ML, et al. Bone. 2021 Mar;144:115803. doi: 10.1016/j.bone.2020.115803. Epub 2021 Jan 12. Bone. 2021. PMID: 33333243
INTRODUCTION: Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns. ...Here, we report on a three-generation family, where the proband and the grandfather have an isolated brachydactyly with features …
INTRODUCTION: Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns …
The molecular genetics of human appendicular skeleton.
Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA. Ahmad S, et al. Mol Genet Genomics. 2022 Sep;297(5):1195-1214. doi: 10.1007/s00438-022-01930-1. Epub 2022 Jul 30. Mol Genet Genomics. 2022. PMID: 35907958
In the current article, we intend to present the embryology, developmental pathways, disorders and the molecular genetics of the appendicular skeletal malformations. We mainly focused on the polydactyly, syndactyly, brachydactyly, split-hand-foot malformation and clubfoot …
In the current article, we intend to present the embryology, developmental pathways, disorders and the molecular genetics of the appendicula …