Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype
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DOI: 10.1111/cge.14166
Abstract: The biallelic variations of the LNPK gene are associated with the âneurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosumâ phenotype [MIM:618090] in the Online Mendelian Inheritance In Men database, and so far, two… read more here.
Keywords: novel lnpk; lnpk variant; lnpk; phenotype ... See more keywords