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Description
Ruizhi “Vince” Duan, MS, will discuss using family-based genomics and rare variant analyses to explore the developmental genomics of congenital limb malformations. Their investigation highlighted that allelic series and dosage effects contribute to the observed clinical variability.
Overview of Presentation:
- Novel variant identification facilitates the discovery of an allelic series.
- WNT10B dysfunction in an isolated split-hand/foot malformation
- A proposed allele-specific gene dosage model for perturbation of BHLHA9 action
- Evidence of founder alleles in multiple limb malformation phenotypes
Read the full paper here: Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
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