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Dataset Information

1K

ICR-GSR


ABSTRACT: Organisation EGAO00000000289

PROVIDER: EGAO00000000289 | EGA |

REPOSITORIES: EGA

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Publications


Overgrowth syndromes comprise a group of heterogeneous disorders characterised by excessive growth parameters, often in association with intellectual disability. To identify new causes of human overgrowth, we have been undertaking trio-based exome sequencing studies in overgrowth patients and their unaffected parents. Prioritisation of functionally relevant genes with multiple unique de novo mutations revealed four mutations in protein phosphatase 2A (PP2A) regulatory subunit B family genes prot  ...[more]

Publication: 1/2

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