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Rob Hadden
Derriford Hospital
OffspringEndocrinologyPathologyEhlers–Danlos syndromeBiological FatherAmniotic BandConnective tissueBiology
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#1Mary B. CallaghanH-Index: 1
#2Rob Hadden (Derriford Hospital)H-Index: 1
Last. Peter D. TurnpennyH-Index: 32
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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 but not in his unaffected child. The amniotic membran...
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