Inherited cause of in utero digital malformations

Amniotic band sequence (ABS) is common birth defect of incompletely understood origin. Here we describe a case of ABS in a child with paternally inherited Ehlers-Danlos syndrome, vascular type (vEDS). This is the third reported instance of ABS associated with paternally inherited vEDS in the medical...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMJ Case Rep
Prif Awduron: Gooch, Catherine, Wright, Caitlin, Nelson, Katherine, Robin, Nathaniel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2020
Pynciau:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7103788/
https://ncbi.nlm.nih.gov/pubmed/32209574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-232020
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