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Paper Details

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
9
2021
BPTF, BPTF variants, NEDDFL, Neurodevelopmental disorder, brain abnormalities, bromodomain PHD finger chromatin remodeler, bromodomain PHD finger chromatin remodeler transcription factor BPTF gene, developmental delay, distal limb anomalies, dysmorphic, dysmorphic facies, dysmorphic facies and, haploinsufficiency of BPTF, intellectual disability, ophthalmologic, postnatal microcephaly, scoliosis, seizures, speech delay, transcription factor BPTF gene
Author NameAffiliation
Anna C E HurstUniversity of Alabama at Birmingham
Kevin M BowlingHudsonAlpha Institute for Biotechnology
Ariel BrautbarCook Children's Hospital
Inger-Lise MeroOslo University Hospital
Yaping YangBaylor College of Medicine
Yaping Yang
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