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Paper Details

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
American Journal of Human Genetics
12
2021
BMP, Cas9, IPO8, Importin 8, Loeys-Dietz syndrome, TGF, TGF--dependent SMADs, cardio-vascular anomalies, cardiovascular and skeletal defects, cardiovascular defects, connective tissue defects, connective tissue disorder, developmental delay, dysmorphic features, genetic disorders, human, immune dysregulation, ipo8, ipo8-/-, joint hyperlaxity, karyopherin family, pSMAD, skeletal abnormalities, syndromic association, transforming growth factor TGF, zebrafish
Author NameAffiliation
Cyrielle BillonAssistance Publique-Hopitaux de Paris
Kerstin KutscheInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf
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