Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Stankiewicz, Paweł

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. [electronic resource] - American journal of human genetics Oct 2017 - 503-515 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2017.08.014 doi


Abnormalities, Multiple--genetics
Adolescent
Animals
Antigens, Nuclear--genetics
CRISPR-Cas Systems
Cell Proliferation
Cells, Cultured
Child
Child, Preschool
Chromatin Assembly and Disassembly
Cohort Studies
Craniofacial Abnormalities--genetics
Female
Gene Editing
Gene Expression Regulation, Developmental
Haploinsufficiency--genetics
Humans
Language Development Disorders--genetics
Larva--genetics
Male
Microcephaly--genetics
Nerve Tissue Proteins--antagonists & inhibitors
Neurons--metabolism
Phenotype
Transcription Factors--antagonists & inhibitors
Zebrafish--genetics