Article
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.
Clinical genetics - 1 Sept 2022
Türkyılmaz Ayberk, Sağer Safiye Güneş, Günbey Hediye Pınar, Akın Yasemin
Abstract excerpt
The biallelic variations of the LNPK gene are associated with the "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" phenotype [MIM:618090] in the Online Mendelian Inheritance In Men database, and so far, two families have been identified in the literature. A third family with novel clinical features, who bears a novel variant in LNPK (NM_030650.3: c.770delA, p.D257fs*31) is...
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