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

Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Genevieve, David; Rouxel, Flavien; Morin, Denis; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H.; Agre, Katherine E.; Jacquemont, Sebastien; Khadije, Jizi; Giltay, Jacques; van Gassen, Koen; Mero, Gabriella; Gerkes, Erica; Van Bon, Bregje W.; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G.; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B.; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-Gonzalez, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B.; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva M. C.; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J. C.

dc.contributor.author	Grasshoff, Ute
dc.contributor.author	Kehrer, Martin
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2024-08-12T07:14:57Z
dc.date.available	2024-08-12T07:14:57Z
dc.date.issued	2024
dc.identifier.issn	0022-2593
dc.identifier.uri	http://hdl.handle.net/10900/156545
dc.language.iso	en	de_DE
dc.publisher	London : Bmj Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1136/jmg-2022-109030	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	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	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240422000000_01473
utue.publikation.seiten	132-141	de_DE
utue.personen.roh	Szakszon, Katalin
utue.personen.roh	Lourenco, Charles Marques
utue.personen.roh	Callewaert, Bert Louis
utue.personen.roh	Genevieve, David
utue.personen.roh	Rouxel, Flavien
utue.personen.roh	Morin, Denis
utue.personen.roh	Denomme-Pichon, Anne-Sophie
utue.personen.roh	Vitobello, Antonio
utue.personen.roh	Patterson, Wesley
utue.personen.roh	Louie, Raymond
utue.personen.roh	Vairo, Filippo
utue.personen.roh	Klee, Eric
utue.personen.roh	Kaiwar, Charu
utue.personen.roh	Gavrilova, Ralitza H.
utue.personen.roh	Agre, Katherine E.
utue.personen.roh	Jacquemont, Sebastien
utue.personen.roh	Khadije, Jizi
utue.personen.roh	Giltay, Jacques
utue.personen.roh	van Gassen, Koen
utue.personen.roh	Mero, Gabriella
utue.personen.roh	Gerkes, Erica
utue.personen.roh	Van Bon, Bregje W.
utue.personen.roh	Rinne, Tuula
utue.personen.roh	Pfundt, Rolph
utue.personen.roh	Brunner, Han G.
utue.personen.roh	Caluseriu, Oana
utue.personen.roh	Grasshoff, Ute
utue.personen.roh	Kehrer, Martin
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Khelifa, Melik Malek
utue.personen.roh	Bergmann, Anke Katharina
utue.personen.roh	Cueto-Gonzalez, Anna Maria
utue.personen.roh	Martorell, Ariadna Campos
utue.personen.roh	Ramachandrappa, Shwetha
utue.personen.roh	Sawyer, Lindsey B.
utue.personen.roh	Fasel, Pascale
utue.personen.roh	Braun, Dominique
utue.personen.roh	Isis, Atallah
utue.personen.roh	Superti-Furga, Andrea
utue.personen.roh	McNiven, Vanda
utue.personen.roh	Chitayat, David
utue.personen.roh	Ahmed, Syed Anas
utue.personen.roh	Brennenstuhl, Heiko
utue.personen.roh	Schwaibolf, Eva M. C.
utue.personen.roh	Battisti, Gladys
utue.personen.roh	Parmentier, Benoit
utue.personen.roh	Stevens, Servi J. C.
dcterms.isPartOf.ZSTitelID	Journal of Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	61	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE