article_metadata: Sarah Vergult Bart Leroy Ilse Claerhout Björn Menten
article_metadata: Mol Vis
article_metadata: 2013;19:311-8.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23401659/
article_metadata: Chromosome Deletion Chromosomes, Human, X / genetics Genetic Diseases, X-Linked / genetics Lyases / genetics Microphthalmos / genetics Skin Abnormalities / genetics
article_metadata: 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
article_metadata: PMC3566894
article_metadata: 23401659
article_metadata: Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
article_metadata: 2013