Associated Papers
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
Wang RY et al.
Journal of Orthopaedic Surgery and Research, 2024
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma.
Green TE et al.
Neurobiology of Disease, 2023
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma.
Courtney E et al.
Human Genome Variation, 2018
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