ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

Pathogenic variants in ZMYND11, which acts as a transcriptional repressor, have been associated with intellectual disability, behavioral abnormalities, and seizures. Only 11 affected individuals have been reported to date, and the phenotype associated with pathogenic variants in this gene have not b...

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Veröffentlicht in:	Human mutation 2020-05, Vol.41 (5), p.1042-1050
Hauptverfasser:	Yates, Thabo M., Drucker, Morgan, Barnicoat, Angela, Low, Karen, Gerkes, Erica H., Fry, Andrew E., Parker, Michael J., O'Driscoll, Mary, Charles, Perrine, Cox, Helen, Marey, Isabelle, Keren, Boris, Rinne, Tuula, McEntagart, Meriel, Ramachandran, Vijaya, Drury, Suzanne, Vansenne, Fleur, Sival, Deborah A., Herkert, Johanna C., Callewaert, Bert, Tan, Wen‐Hann, Balasubramanian, Meena
Format:	Artikel
Sprache:	eng
Schlagworte:	behavioral symptoms Brachydactyly Dental enamel gene expression regulation Genotype & phenotype Hypoplasia Intellectual disabilities intellectual disability Phenotypes Seizures Transcription Zinc finger proteins zinc fingers
Online-Zugang:	Volltext
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