Associated Papers
Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
Suntharalingham JP et al.
Frontiers in Endocrinology, 2023
37800145 (PubMed )
Supplement: DataSheet_1.pdf
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P et al.
Frontiers in Endocrinology, 2020
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.
Orosz O et al.
Investigative Ophthalmology & Visual Science, 2017
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.
Yamamoto T et al.
Human Genome Variation, 2014
Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia).
Lago-Lestón R et al.
Clinical Endocrinology, 2009
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