Grau, Christina

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. [electronic resource] - PloS one 2017 - e0175962 p. digital

Publication Type: Journal Article

1932-6203

10.1371/journal.pone.0175962 doi


Antigens, Neoplasm--genetics
Child
Child, Preschool
Chromosomal Proteins, Non-Histone--genetics
Chromosome Duplication--genetics
Chromosomes, Human, X--genetics
Comparative Genomic Hybridization--methods
Developmental Disabilities--genetics
Female
Genes, X-Linked--genetics
Humans
Intellectual Disability--genetics
Male
Neoplasm Proteins--genetics
Pedigree
Peptide Termination Factors--genetics
Phenotype
Sequence Deletion--genetics
X Chromosome Inactivation--genetics