Associated Papers
Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.
Ettaki I et al.
Hgg Advances, 2025
39797402 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
Collins Hutchinson ML et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.
Bierhals T et al.
European Journal of Medical Genetics, 2018
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Bouilly J et al.
Human Molecular Genetics, 2018
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Marsh APL et al.
Human Mutation, 2018
Biallelic mutations in human DCC cause developmental split-brain syndrome.
Jamuar SS et al.
Nature Genetics, 2017
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.
Méneret A et al.
Neurology, 2014
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