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Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder.

Neuropediatrics - 1 Aug 2022

Alfei Enrico, Cattaneo Elisa, Spaccini Luigina, Iascone Maria, Veggiotti Pierangelo, Doneda Chiara

Abstract excerpt

We report a patient affected by BCL11B-related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that BCL11B...

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PMID: 34844266
DOI: 10.1055/s-0041-1736193

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