2022
DOI: 10.21931/rb/2022.07.01.16
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Rare pathology derived from a ring chromosome 15. Clinical, genomic and protein interactome of genes associated with the phenotype

Abstract: The case of a 4-year-two-month-old female patient is presented, who consulted for a special phenotype: psychomotor retardation, short stature, microcephaly, large and low-set ears, small forehead, prominent brow ridges, labial commissure open, ocular hypertelorism, short neck, mammary hypertelorism and pectus excavatum. The objective of this study is to analyze a patient with unusual phenotypic traits, through physical examination, comparative analysis with other cases, and genetic studies. The cytogenetic stu… Show more

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