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Paper Details

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
53
2017
17q24, BPTF, BPTF haploinsufficiency, BPTF variants, Bromodomain PHD finger transcription factor, Cas9, Dysmorphic Features, F0, F0 mutants, Haploinsufficiency of the Chromatin Remodeler BPTF, ISWI chromatin-remodeling complex, NURF, PH3, Postnatal Microcephaly, Smad2, Syndromic Developmental and Speech Delay, Terminal deoxynucleotidyl transferase, bptf, bptf F0 mutants, chromatin, dUTP, developmental delay, dysmorphic features, human, intellectual disability, larvae, mouse, nucleosome remodeling factor, phospho-histone H3, posterior neuroectodermal fate, postnatal microcephaly, speech delay, syndromic neurodevelopmental anomalies, wnt8, zebrafish
Author NameAffiliation
Jonathan A BernsteinStanford University
Sarah ScollonTexas Children's Hospital, Baylor College of Medicine, USA Texas Children's Cancer Center
Katie BergstromTexas Children's Hospital, Baylor College of Medicine, USA Texas Children's Cancer Center
Donald W ParsonsBaylor College of Medicine, USA Texas Children's Hospital, USA Texas Children's Cancer Center, Texas Children's Hospital
Donald W ParsonsBaylor College of Medicine, USA Texas Children's Hospital, USA Texas Children's Cancer Center, Texas Children's Hospital
Sharon E PlonBaylor College of Medicine, USA Texas Children's Hospital, USA Texas Children's Cancer Center, Texas Children's Hospital
Sarju G MehtaClinical Genetics, Addenbrooke's Hospital
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center
Yaping YangBaylor College of Medicine
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