A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3

American Journal of Medical Genetics, Part A

Volumn 167, Issue 5, 2015, Pages 1117-1120

  Langley, Katherine G ^a,b   Trau, Steven ^a   Bean, Lora J H ^c   Narravula, Alekhya ^c   Schrier Vergano, Samantha A ^a,b  

^a EASTERN VIRGINIA MEDICAL SCHOOL   (United States)

^b CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Allan Herndon Dudley; Hypotonia; Spastic paraplegia; T3; X linked

Indexed keywords

LACTIC ACID; LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 8;

ALLAN HERNDON DUDLEY SYNDROME; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CLINICAL FEATURE; COPY NUMBER VARIATION; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FAILURE TO THRIVE; GENE SEQUENCE; GENETIC VARIABILITY; GENOME ANALYSIS; HEAD CIRCUMFERENCE; HUMAN; HYPOTHYROIDISM; INFANT; LACTATE BLOOD LEVEL; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SLC16A2 GENE; SPASTICITY; SUPERIOR CEREBELLAR PEDUNCLE; X CHROMOSOME LINKED DISORDER; BLOOD; GENETICS; INTELLECTUAL IMPAIRMENT; MULTIPLE MALFORMATION SYNDROME; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUTATION; PARAPLEGIA; PATHOPHYSIOLOGY; PEDIGREE; X LINKED MENTAL RETARDATION;

ABNORMALITIES, MULTIPLE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MENTAL RETARDATION, X-LINKED; MUSCLE HYPOTONIA; MUSCULAR ATROPHY; MUTATION; PARAPLEGIA; PEDIGREE; TRIIODOTHYRONINE;

EID: 84927912999     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36970     Document Type: Article

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