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Paper Details

<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals.
Front Cell Dev Biol
7
2023
CHUJANS, Chung-Jansen syndrome, DD, DD/ID, ID, Intellectual developmental disorder, X-linked, syndromic, OMIM #617991, PWS, Prader-Willi syndrome, anteverted nares, behavioral abnormalities, developmental delay, facial dysmorphism, genomic regions, haploinsufficiency of (pleckstrin homology domain interacting protein, intellectual disability, learning difficulties, learning disability, obesity, patients, pleckstrin homology domain interacting protein, splice variants, truncating variants, weight problems
Author NameAffiliation
Elsa LeitãoInstitut fur Humangenetik, Universitatsmedizin Essen, Universitat Duisburg-Essen
Peter M KrawitzInstitut fur Genomische Statistik und Bioinformatik, Universitatsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universitat Bonn
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