Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.

Zepeda-Mendoza, Cinthya J

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