A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	2395-2403
Number of pages	9
Journal	American Journal of Medical Genetics, Part A
Volume	176
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.40478
Publication status	Published - 1 Nov 2018

18p11.32 microduplication, developmental delay, diabetes mellitus, EMILIN2, intellectual disability, keratosis pilaris, LAMA1, LPIN2, METTL4, mosaic CNVs, NDC80, SMCHD1, TRISOMY 18P, MONOSOMY, 18P DELETION, GENE, COPY-NUMBER, SHORT ARM, ULERYTHEMA-OPHRYOGENES, Chromosome Duplication/genetics, Humans, Child, Preschool, Skin/pathology, Infant, Male, Fibroblasts/metabolism, Intellectual Disability/complications, Child, Infant, Newborn, Abnormalities, Multiple/genetics, Gene Expression Regulation, Laminin/genetics, Comparative Genomic Hybridization, Darier Disease/complications, Adolescent, Mosaicism, Eyebrows/abnormalities

ID: 16688896