Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. [electronic resource]
- European journal of human genetics : EJHG 03 2018
- 374-381 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
1476-5438
10.1038/s41431-017-0068-0 doi
Cadherin Related Proteins Cadherins--genetics Child Chromatin--chemistry Chromosomal Position Effects Chromosome Aberrations Chromosome Disorders--genetics Developmental Disabilities--genetics Forkhead Transcription Factors--genetics Genetic Testing--methods Humans Male Nerve Tissue Proteins--genetics Phenotype Platelet Glycoprotein GPIb-IX Complex--genetics Protein-Arginine Deiminase Type 3 Protein-Arginine Deiminase Type 4 Protein-Arginine Deiminases--genetics