Auriane Cospain - Dissemin

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All papers authored by Auriane Cospain

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2022 Auriane Cospain

ORCID

, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine

ORCID

, Wayne Wing Keung Lam, Kris Van Den Bogaert, Anneleen Boogaerts and 17 other authors

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

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Auriane Cospain

ORCID

, Marie Faoucher, Aurélie Cauchois, Wilfrid Carre, Chloé Quelin, Christèle Dubourg

Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant

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Marion Rolland

ORCID

, Christèle Dubourg, Auriane Cospain

ORCID

, Catherine Droitcourt, Laurent Pasquier

ORCID

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

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2021 Auriane Cospain

ORCID

, Lionel Van Maldergem, Elise Schaefer, Marie Faoucher, Christèle Dubourg, Wilfrid Carré, Varoona Bizaoui, Jessica Assoumani, Amélie Piton, Bénédicte Gérard, Ange‐Line Bruel

ORCID

, Laurence Faivre, Florence Demurger, Laurent Pasquier

ORCID

, Sylvie Odent and 3 other authors

Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.

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This paper was not found in any repository, but could be made available legally by the author.

2020 Auriane Cospain

ORCID

, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Lena Damaj, Alinoë Lavillaureix

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

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