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.
Katalin SzakszonCharles Marques LourencoBert Louis CallewaertDavid GenevièveFlavien RouxelDenis MorinAnne Sophie Denommé-PichonAntonio VitobelloWesley PattersonRaymond LouieFilippo Pinto E VairoEric W KleeCharu KaiwarRalitza H GavrilovaKatherine E AgreSebastien JacquemontJizi KhadijéJacques GiltayKoen van GassenGabriella MerőErica GerkesBregje W Van BonTuula RinneRolph PfundtHan G BrunnerOana CaluseriuUte GrasshoffMartin KehrerTobias B HaackMelik Malek KhelifaAnke Katharina BergmannAnna Maria Cueto-GonzálezAriadna Campos MartorellShwetha RamachandrappaLindsey B SawyerPascale FaselDominique BraunAtallah IsisAndrea Superti-FurgaVanda McNivenDavid ChitayatSyed Anas AhmedHeiko BrennenstuhlEva Mc SchwaibolfGladys BattistiBenoit ParmentierServi J C StevensPublished in: Journal of medical genetics (2023)
-related neurodevelopmental disorder'.
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