Missense ADAMTS6 variants & #ThoracicAorticAneurysm

#TAA seen in 3/4 probands (4 variants)

ADAMTS6 L814R Fibroblast➡️
⏫Fibrillin 1/2 & Fibronectin deposition
⏫#FocalAdhesion

Adamts6 S149R/S149R🐭➡️
⏫FBN1/2/Fn in🫀outflow tract

#AortaEd
#GenetMed 2026
www.sciencedirect.com/science/arti...

hiPSC-derived neural crest-osteoprogenitor & transgenic🐭modeling of structural/copy-number variants for #Craniosynostosis

FGF5 [dup(4)(q21.21), 730kb ▶️a neoTAD]

FGF9 [interspersed 13q12.11 duplication, 568 kb] (-/+FOXP2)

Hi-C, deepC, RNAseq

#GenetMed 2026
www.sciencedirect.com/science/arti...