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Structure: Internal structure identifier : 34216
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Internal carotid artery hypoplasia A new clinical feature in pseudoxanthoma elasticum

Loukman Omarjee , Jacques-Olivier Fortrat , Antoine Larralde , Estelle Le Pabic , Gilles Kauffenstein et al.
Journal of Stroke, 2019, 21 (1), pp.108-111. ⟨10.5853/jos.2018.02705⟩
Journal articles hal-02161036v1

Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

Sophie Ronceray , Juliette Miquel , Antoine Lucas , Gérald E. Piérard , Trinh Hermanns-Lê et al.
Case Reports in Dermatological Medicine, 2013, 2013, pp.469505. ⟨10.1155/2013/469505⟩
Journal articles hal-01064292v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson et al.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Journal articles hal-01919142v1
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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.

Lucas Fares-Taie , Sylvie Gerber , Akihiko Tawara , Arturo Ramirez-Miranda , Jean-Yves Douet et al.
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
Journal articles hal-01134461v1

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Matthew A. Deardorff , Masashige Bando , Ryuichiro Nakato , Erwan Watrin , Takehiko Itoh et al.
Nature, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩
Journal articles inserm-00728375v1
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino , Helen M. Stuart , Kate E. Chandler , Neil A. Roberts , Ruth Armstrong et al.
American Journal of Human Genetics, 2017, 101 (6), pp.1021-1033. ⟨10.1016/j.ajhg.2017.11.006⟩
Journal articles hal-01699166v1