关键词: GPR143 TBL1X, SHROOM2 cnpas congenital nasal pyriform aperture stenosis ocular albinism
Mesh : Albinism, Ocular / genetics Chromosome Deletion Chromosome Mapping Chromosomes, Human, X Eye Proteins / genetics Facies Genetic Diseases, X-Linked / diagnosis genetics Humans Infant Male Membrane Glycoproteins / genetics Nose / abnormalities diagnostic imaging Siblings Tomography, X-Ray Computed Transducin / genetics
来 源:
DOI:10.1002/ajmg.a.36415
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