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Novel SLC16A2 Gene Mutation: A Rare Case of Delayed Myelination with Dysthyroidism,v Allan-Herndon-Dudley Syndrome.

Neurology India - 1 Jan 2000

Mahesan Aakash, Kamila Gautam, Choudhary Puneet, Jauhari Prashant, Chakrabarty Biswaroop, Kumar Atin, Gulati Sheffali

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PMID: 38174482
DOI: 10.4103/0028-3886.391343

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Novel SLC16A2 Gene Mutation: A Rare Case of Delayed Myelination with Dysthyroidism,v Allan-Herndon-Dudley Syndrome.PMID 38174482Read ↗

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.Semantic proximity Read ↗

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A novel frameshift mutation in Allan-Herndon-Dudley syndrome.Semantic proximity Read ↗

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.Semantic proximity Read ↗

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Semantic proximity Read ↗

Novel Variants in the SLC16A2 Gene Associated With Allan-Herndon-Dudley Syndrome in China.Semantic proximity Read ↗

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.Semantic proximity Read ↗

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.Semantic proximity Read ↗

[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].Semantic proximity Read ↗

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.Semantic proximity Read ↗

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.Semantic proximity Read ↗

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?Semantic proximity Read ↗

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