Konu "Autosomal recessive" için Fakülteler listeleme
Toplam kayıt 2, listelenen: 1-2
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Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation
(ASEAN NEUROLOGICAL ASSOC, 2021)Autosomal recessive intermediate Charcot Marie Tooth (CMT) disease type C is a very rarely-seen neurogenetic disorder. Homozygous or compound heterozygous mutation in the Pleckstrin homology domain-containing family G ... -
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
(Elsevier B.V., 2022)Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were ...