Associated Papers
Unusual clinical presentation and new mutation in a case of triple A syndrome.
López Valverde ME et al.
Endocrinologia, Diabetes Y Nutricion, 2022
5-Alpha-reductase type 2 deficiency. A new case in the Spanish population.
González Fenández M et al.
Endocrinologia, Diabetes Y Nutricion, 2022
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene.
Jabbour S et al.
Cornea, 2020
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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