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Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
[BACKGROUND] Variants in the TUBB4A gene are associated with dystonia (DYT-TUBB4A), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) and spastic paraplegia. Phenotypes intermediate to these three broad phenotypes are…
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Osteocutaneous Turn-Up Fillet Flaps: A Spare-Parts Orthoplastic Surgery Option for a Functional Posttraumatic Below-Knee Amputation.
This article portrays the authors' experience with a complex lower limb bone and soft tissue defect, following chronic osteomyelitis and pathological fracture, which was managed by the multidisciplinary orthoplastic team. The decision for f…