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Page 1
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy.
Ahmad SR, Hanafi S. Ahmad SR, et al. Clin Genet. 2025 Aug;108(2):212-217. doi: 10.1111/cge.14733. Epub 2025 Feb 23. Clin Genet. 2025. PMID: 39988558
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a rare autosomal recessive disorder characterized by malformation or absence of the corpus callosum, accompanied by progressive peripheral nerve degenerat …
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a rare autosom …
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
Rius R, González-Del Angel A, Velázquez-Aragón JA, Cordero-Guzmán LM, Muñoz-Hernández SE, Alcántara-Ortigoza MA. Rius R, et al. Neurol India. 2018 Jul-Aug;66(4):1162-1165. doi: 10.4103/0028-3886.236987. Neurol India. 2018. PMID: 30038111 Free article. No abstract available.
A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum.
Al Shibli N, Al-Maawali A, Elmanzalawy A, Al-Nabhani M, Koul R, Gabr A, Al Murshedi F. Al Shibli N, et al. J Pediatr Genet. 2020 Dec;9(4):293-295. doi: 10.1055/s-0039-1700975. Epub 2020 Jan 6. J Pediatr Genet. 2020. PMID: 32765936 Free PMC article.
Andermann syndrome, otherwise known as agenesis of the corpus callosum with peripheral neuropathy (ACCPN), is an autosomal recessive motor and sensory neuropathy known to be associated with ACC and mild-to-moderate intellect …
Andermann syndrome, otherwise known as agenesis of the corpus callosum with peripheral n …
Andermann syndrome in a Turkish patient.
Demir E, Irobi J, Erdem S, Demirci M, Tan E, Timmerman V, De Jonghe P, Topaloglu H. Demir E, et al. J Child Neurol. 2003 Jan;18(1):76-9. doi: 10.1177/08830738030180011901. J Child Neurol. 2003. PMID: 12661946
Agenesis of the corpus callosum with peripheral neuropathy or Andermann syndrome is an autosomal recessive disorder rarely found outside certain regions of the province of Quebec, Canada. ...The molecular genetic analysis us …
Agenesis of the corpus callosum with peripheral neuropathy or Andermann syndrome is …
Report of Two Siblings with Andermann Syndrome.
Gowda VK, Srinivasan VM, Sarmast SN, Shivappa SK. Gowda VK, et al. Indian J Pediatr. 2020 Aug;87(8):656-657. doi: 10.1007/s12098-020-03238-7. Epub 2020 Feb 12. Indian J Pediatr. 2020. PMID: 32052274 No abstract available.
17 results