Erin L Youngs Rebecca Henkhaus Jessica A Hellings Merlin G Butler
10.1016/j.ejmg.2011.08.004
Eur J Med Genet
2012 Jan;55(1):32-6.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/21933724/
Chromosomes, Human, X / genetics Gene Deletion Interleukin-1 Receptor Accessory Protein / genetics Mental Retardation, X-Linked / genetics
Chromosomes, Human, X / genetics Gene Deletion Interleukin-1 Receptor Accessory Protein / genetics Mental Retardation, X-Linked / genetics Case Reports Abnormalities, Multiple / genetics Abnormalities, Multiple / pathology Adolescent Female Genetic Testing Hippocampus / metabolism Hippocampus / pathology Humans Male Mental Retardation, X-Linked / pathology Oligonucleotide Array Sequence Analysis / methods Pedigree Phenotype IL1RAPL1 protein, human Interleukin-1 Receptor Accessory Protein
PMC5438265
21933724
IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features
2012