Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature

Mathieu P Rodero (1) , Chiara de Luca , Yanick Crow (2) , Mathieu Rodéro (1) , Gillian I. Rice (3) , Melek Ahmed , Martin Lammens (4) , Paul de Cock , Hilde van Esch (5) , Lieven Lagae (6) , Anne Rochtus

1 LCBPT - UMR 8601 - Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques
2 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
3 MAHSC - Manchester Academic Health Science Centre
4 UZA - Antwerp University Hospital [Edegem]
5 Centre for Human Genetics
6 Department of Pediatric Neurology

Domaines: Sciences du Vivant [q-bio]

Mathieu P Rodero, Chiara de Luca, Yanick Crow, Mathieu Rodéro, Gillian I. Rice, et al.. Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature. Clinical Genetics, 2020, 98 (5), pp.423-432. ⟨10.1111/CGE.13761⟩. ⟨hal-02996391⟩