Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels

European Journal of Medical Genetics

Volumn 56, Issue 4, 2013, Pages 207-210

  Boccone, Loredana ^a   Dessì, Valentina ^b   Meloni, Antonella ^a   Loudianos, Georgios ^a  

^a Territorial Department of Nephrology and Dialysis   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

AHDS; MCT8; Mental retardation; Phenotype; Thyroid hormone; Variability

Indexed keywords

LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 8; SEX HORMONE BINDING GLOBULIN;

ADULT; ALLAN HERNDON DUDLEY SYNDROME; ARTICLE; ATHETOSIS; BABINSKI REFLEX; BRUXISM; CASE REPORT; CHOREOATHETOSIS; CLINICAL FEATURE; CLONUS; DISEASE ASSOCIATION; DNA SEQUENCE; DYSARTHRIA; DYSKINESIA; FAMILY; FAT MASS; GASTROESOPHAGEAL REFLUX; GENETIC SCREENING; HEAD CIRCUMFERENCE; HEMIZYGOSITY; HETEROZYGOTE; HUMAN; HYPERREFLEXIA; HYPERSALIVATION; INFANT; INTELLECTUAL IMPAIRMENT; LARGE EAR; LIOTHYRONINE BLOOD LEVEL; MALE; MENTAL DEFICIENCY; MENTAL DISEASE; MIDFACE HYPOPLASIA; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUSCLE MASS; PHENOTYPIC VARIATION; PLAGIOCEPHALY; SEQUENCE ANALYSIS; TONIC CLONIC SEIZURE; X CHROMOSOME LINKED DISORDER;

ADULT; CHILD; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MENTAL RETARDATION, X-LINKED; MIDDLE AGED; MONOCARBOXYLIC ACID TRANSPORTERS; MUSCLE HYPOTONIA; MUSCULAR ATROPHY; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; TRIIODOTHYRONINE;

EID: 84875910280     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.02.001     Document Type: Article

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