ARF1 -related disorder: phenotypic and molecular spectrum.
Jean-Madeleine de Sainte AgatheBen Pode-ShakkedSophie NaudionVincent MichaudBenoit ArveilerPatricia FergelotJean DelmasBoris KerenCéline PoirsierFowzan Sami AlkurayaBrahim TabarkiEric BendKellie DavisE Martina BebinMichelle L ThompsonEmily M BryantMatias WagnerIris HannibalJerica LenbergMartin KrennKristen M WigbyJennifer R FriedmanMaria IasconeAnna CeredaTérence MiaoEric Le GuernEmanuela ArgilliElliott SherrOana CaluseriuTimothy TidwellPinar Bayrak-ToydemirCaroline HagedornMelanie BruggerKatharina VillFrancois-Dominique Morneau-JacobWendy K ChungKathryn Nicole WeaverJoshua W OwensAmmar HusamiBimal P ChaudhariBrandon S StoneKatie BurnsRachel LiIris M de LangeMargaux BiehlerEmmanuelle GinglingerBénédicte GérardRolf W StottmannAurélien TrimouillePublished in: Journal of medical genetics (2023)
in an autosomal dominant syndrome with a phenotypic spectrum including severe ID, microcephaly, seizures and PVNH due to impaired neuronal migration.