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NANCE-HORAN Syndrome - Europe PMC

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Last Updated: 02 April 2022

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Identification of a novel microdeletion causative of Nance-Horan syndrome.

Background Nance-Horan syndrome is a rare X-linked genetic disorder that is characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. Microdeletions encompassing the NHS gene rather than sequencing variants have been reported in the medical literature, with a total of five kindreds with NHS being identified in the medical literature. Conclusion Here, we present our second most significant microdeletion causative of NHS, as well as the remaining four speciesatives in the hopes of providing a unique glimpse at the clinical variability within NHS, investigate genes of concern, and broaden the phenotype.

Source link: https://europepmc.org/article/MED/35122698

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions