학술논문
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): Genotype and phenotype of 22 patients with ZNF148 mutations
Document Type
Article
Author
Szakszon, K.; Mer ', G.; Lourenco, C.M.; Callewaert, B.L.; Geneviève, D.; Rouxel, F.; Morin, D.; Denommé-Pichon, A.-S.; Vitobello, A.; Patterson, W.; Louie, R.; Pinto E Vairo, F.; Klee, E.; Kaiwar, C.; Gavrilova, R.H.; Agre, K.E.; Jacquemont, S.; Khadijé, J.; Giltay, J.; Van Gassen, K.; Gerkes, E.; Van Bon, B.W.; Rinne, T.; Pfundt, R.; Brunner, H.G.; Caluseriu, O.; Grasshoff, U.; Kehrer, M.; Haack, T.B.; Khelifa, M.M.; Bergmann, A.K.; Cueto-González, A.M.; Martorell, A.C.; Ramachandrappa, S.; Sawyer, L.B.; Fasel, P.; Braun, D.; Isis, A.; Superti-Furga, A.; McNiven, V.; Ahmed, S.A.; Chitayat, D.; Brennenstuhl, H.; Schwaibolf, E.M.C.; Battisti, G.; Parmentier, B.; Stevens, S.J.C.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, 2023)
Subject
Language
English
ISSN
14686244
00222593
00222593