Article
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
American journal of medical genetics. Part A - 1 Mar 2020
Preiksaitiene Egle, Voisin Norine, Gueneau Lucie, Benušienė Eglė, Krasovskaja Natalija, Blažytė Evelina Marija, Ambrozaitytė Laima, Rančelis Tautvydas, Reymond Alexandre, Kučinskas Vaidutis
Abstract excerpt
Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb-girdle muscular dystrophy-dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12). These disorders are very rare and have been previously reported in 10 affected individuals. We present two unrelated Lithuanian families with...
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