Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH

European Journal of Medical Genetics

Volumn 53, Issue 6, 2010, Pages 392-395

  Boccone, Loredana ^a   Mariotti, Stefano ^b   Dessì, Valentina ^c   Pruna, Dario ^d   Meloni, Antonella ^a   Loudianos, Georgios ^a  

^a Osp Regionale per le Microcitemie   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c Dipartimento di Scienze Biomediche e Biotecnologie USC   (Italy)

^d DEPARTMENT OF RADIOLOGY   (Italy)

Author keywords

Allan Herndon Dudley syndrome; Free triiodothyronine; Mutation; Paroxysmal dyskinesias; SLC16A2 gene

Indexed keywords

LIOTHYRONINE; PROTIRELIN; THYROTROPIN;

ALLAN HERNDON DUDLEY SYNDROME; ARTICLE; ATHETOSIS; CASE REPORT; CHILD; DISEASE SEVERITY; DYSARTHRIA; DYSKINESIA; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GENE; GENE INSERTION; GENE MUTATION; HUMAN; HYPOPLASIA; LIOTHYRONINE BLOOD LEVEL; MALE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; PRESCHOOL CHILD; SEIZURE; SLC16A2 GENE; SPASTIC PARAPLEGIA; X CHROMOSOME LINKED DISORDER; X LINKED MENTAL RETARDATION;

ABNORMALITIES, MULTIPLE; CHOREA; FRAMESHIFT MUTATION; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MONOCARBOXYLIC ACID TRANSPORTERS; MUSCLE HYPOTONIA; MUSCULAR ATROPHY; PHENOTYPE; THYROTROPIN; THYROXINE; TRIIODOTHYRONINE;

EID: 78349304919     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.08.001     Document Type: Article

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