Sarah Vergult Bart Leroy Ilse Claerhout Björn Menten
Mol Vis
2013;19:311-8.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23401659/
Chromosome Deletion Chromosomes, Human, X / genetics Genetic Diseases, X-Linked / genetics Lyases / genetics Microphthalmos / genetics Skin Abnormalities / genetics
Chromosome Deletion Chromosomes, Human, X / genetics Genetic Diseases, X-Linked / genetics Lyases / genetics Microphthalmos / genetics Skin Abnormalities / genetics Case Reports Research Support, Non-U.S. Gov't Child Comparative Genomic Hybridization Female GTPase-Activating Proteins / genetics Gene Deletion Genetic Association Studies Genetic Diseases, X-Linked / pathology Genetic Diseases, X-Linked / physiopathology Humans Male Microphthalmos / pathology Microphthalmos / physiopathology Middle Aged Pedigree Skin Abnormalities / pathology Skin Abnormalities / physiopathology Syndrome X Chromosome Inactivation ARHGAP6 protein, human GTPase-Activating Proteins Lyases cytochrome C synthetase Microphthalmia, syndromic 7
PMC3566894
23401659
Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
2013