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Paper Details

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
4
2021
Genitopatellar Syndrome, KAT6B, KAT6B gene, KAT6B variants, KAT6B-related disorders, Lysine, Lysine Acetyltransferase 6B, MORF, MYST4, Say-Barber-Biesecker-Young-Simpson Syndrome, chromatin, craniofacial dysmorphology, intellectual disability, keratoconus, mobility and language difficulties, model cell lines, patients, skeletal anomalies
Author NameAffiliation
Julie S CohenKennedy Krieger Institute
Julie S CohenJohns Hopkins School of Medicine
Timothy W YuBoston Children's Hospital, Harvard Medical School
Timothy W YuBoston Children's Hospital, Harvard Medical School
Pankaj B AgrawalBoston Children's Hospital, Harvard Medical School
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B AgrawalBoston Children's Hospital
Anne O'Donnell-LuriaBoston Children's Hospital, Harvard Medical School
Anne O'Donnell-LuriaBoston Children's Hospital, Harvard Medical School
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Release 1.2