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Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

24 Jun 2020

Abstract excerpt

Background A large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus. XLI and KS are caused by the deletion of STS and ANOS1 , respectively. Method Two KS patients with XLI were screened to identify possible pathogenic mutations using whole...

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PMID: 32670353
DOI: 10.3389/fgene.2020.00596

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Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and StrabismusPMID 32670353Read ↗

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