A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report

MCT8 Deficiency: The Road to Therapies for a Rare Disease

(2020) Carmen Grijota-Martínez et al.   Frontiers in Neuroscience

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

(2020) Stefan Groeneweg et al.   Lancet Diabetes & Endocrinology

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

(2019) Ganaelle Remerand et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Thyroid hormone transporters

(2019) Stefan Groeneweg et al.   ENDOCRINE REVIEWS

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss

(2015) Lucia Gagliardi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care

(2010) Helton Estrela Ramos et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors

(2008) Robin L. Bennett et al.   Journal of Genetic Counseling