Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome

Human Mutation

Volumn 38, Issue 3, 2017, Pages 260-264

  Novara, Francesca ^a   Groeneweg, Stefan ^b   Freri, Elena ^c   Estienne, Margherita ^c   Reho, Paolo ^a   Matricardi, Sara ^c,d   Castellotti, Barbara ^c   Visser, W Edward ^b   Zuffardi, Orsetta ^a   Visser, Theo J ^b  

^a UNIVERSITY OF PAVIA   (Italy)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

Author keywords

Allan Herndon Dudley Syndrome; MCT8; SLC16A2; thyroid hormone transport

Indexed keywords

MONOCARBOXYLATE TRANSPORTER 8; BIOLOGICAL MARKER; MONOCARBOXYLATE TRANSPORTER; SLC16A2 PROTEIN, HUMAN;

ALLAN HERNDON DUDLEY SYNDROME; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE MUTATION; GENETIC AND FAMILIAL DISORDERS; HUMAN; MALE; MOLECULAR GENETICS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEQUENCE ANALYSIS; THYROTOXICOSIS; GENETICS; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUTATION; PEDIGREE; PRESCHOOL CHILD; X LINKED MENTAL RETARDATION;

BIOMARKERS; CHILD; CHILD, PRESCHOOL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION, X-LINKED; MONOCARBOXYLIC ACID TRANSPORTERS; MUSCLE HYPOTONIA; MUSCULAR ATROPHY; MUTATION; PEDIGREE; PHENOTYPE;

EID: 85008144257     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23140     Document Type: Article

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