Article

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

2022-11-14

Abstract excerpt

<h4>Background</h4> Terminal 6p deletions are rare, and information on their clinical consequences is scarce, which impedes optimal management and follow-up by clinicians. The parent-driven Chromosome 6 Project collaborates with families of affected children worldwide to better understand the clinical effects of chromosome 6 aberrations and to support clinical guidance. A microarray report is required for particip...

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Literature Corpus work: ff62aba8-9f2e-5bf1-b44c-a362dc853d0c
DOI: 10.1101/2022.11.08.22282033

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