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Author/Creator Cospain, Auriane

1. Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report. Issue 3 (8th March 2022)

Authors:
Rolland, Marion; Dubourg, Christèle; Cospain, Auriane; Droitcourt, Catherine; Pasquier, Laurent
Journal:
Pediatric dermatology
Issue:
Volume 39:Issue 3(2022)
Page Start:
434
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype. Issue 5 (8th February 2021)

Authors:
Cospain, Auriane; Schaefer, Elise; Faoucher, Marie; Dubourg, Christèle; Carré, Wilfrid; Bizaoui, Varoona; Assoumani, Jessica; Van Maldergem, Lionel; Piton, Amélie; Gérard, Bénédicte; Tran Mau‐Them, Frédéric; Bruel, Ange‐Line; Faivre, Laurence; Demurger, Florence; Pasquier, Laurent; Odent, Sylvie;...
Journal:
Clinical genetics
Issue:
Volume 99:Issue 5(2021)
Page Start:
732
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗