Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome

Volume: 182, Issue: 3, Pages: 553 - 556
Published: Dec 12, 2019
Abstract
Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half‐siblings with ABS who share the same biological father. Following a serious vascular event a de novo pathogenic variant in COL3A1 was detected in the father, confirming a diagnosis of vascular Ehlers–Danlos syndrome (vEDS). The same variant was found in both his ABS‐affected children...
Paper Details
Title
Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome
Published Date
Dec 12, 2019
Volume
182
Issue
3
Pages
553 - 556
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