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Article

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

Bone - 1 Mar 2021

Genovesi Maria Luce, Guadagnolo Daniele, Marchionni Enrica, Giovannetti Agnese, Traversa Alice, Panzironi Noemi, Bernardo Silvia, Palumbo Pietro, Petrizzelli Francesco, Carella Massimo, Mazza Tommaso, Pizzuti Antonio, Caputo Viviana

Abstract excerpt

INTRODUCTION: Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns. Mutations in GDF5 (Growth and Differentiation Factor 5, MIM *601146) account for a significant amount of cases. Here, we report on a three-generation family, where the proband and the grandfather have an isolated brachydactyly with features of both type A1 (MIM #112500) and type C...

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Brachydactyly
Genetic Association Studies
Growth Differentiation Factor 5
Musculoskeletal Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Osteochondrodysplasias

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PMID: 33333243
DOI: 10.1016/j.bone.2020.115803

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