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A novel COL1A1 variant in a family with clinical features o..:
Foy, Malika
;
de Mazancourt, Philippe
;
Métay, Corinne
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ccr3.4128. , 2021
Link:
https://hal.science/hal-04074072
RT Journal T1
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftunivparis:oai:HAL:hal-04074072v1&Exemplar=1&LAN=DE A1 Foy, Malika A1 de Mazancourt, Philippe A1 Métay, Corinne A1 Carlier, Robert A1 Allamand, Valérie A1 Gartioux, Corine A1 Gillas, Fabrice A1 Miri, Nawel A1 Jobic, Valérie A1 Mekki, Ahmed A1 Richard, Pascale A1 Michot, Caroline A1 Benistan, Karelle PB HAL CCSD; Wiley YR 2021 K1 COL1A1 K1 Ehlers‐Danlos Syndrome K1 connective tissue K1 hypermobile EDS K1 joint laxity K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.1002/ccr3.4128 LK http://dx.doi.org/https://hal.science/hal-04074072 DO https://hal.science/hal-04074072 SF ELIB - SuUB Bremen
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