Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. 2014

Carolina J Jorgez, and John W Weedin, and Aysegul Sahin, and Mounia Tannour-Louet, and Shuo Han, and Juan C Bournat, and Anna Mielnik, and Sau Wai Cheung, and Ajay Nangia, and Peter N Schlegel, and Larry I Lipshultz, and Dolores J Lamb
Center for Reproductive Medicine, Houston, TX, USA.

UI MeSH Term Description Entries
D008297 Male Males
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D057895 Haploinsufficiency A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. Haploinsufficiencies
D018398 Homeodomain Proteins Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL). Homeo Domain Protein,Homeobox Protein,Homeobox Proteins,Homeodomain Protein,Homeoprotein,Homeoproteins,Homeotic Protein,Homeo Domain Proteins,Homeotic Proteins,Domain Protein, Homeo,Protein, Homeo Domain,Protein, Homeobox,Protein, Homeodomain,Protein, Homeotic,Proteins, Homeo Domain,Proteins, Homeobox,Proteins, Homeodomain,Proteins, Homeotic
D041322 Chromosomes, Human, Y The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans. Y Chromosome, Human,Chromosome, Human Y,Chromosomes, Human Y,Human Y Chromosome,Human Y Chromosomes,Y Chromosomes, Human

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