4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations

Archives of Neurology

Volumn 69, Issue 7, 2012, Pages 920-923

  Potic, Ana ^a   Brais, Bernard ^b   Choquet, Karine ^c   Schiffmann, Raphael ^d   Bernard, Geneviève ^c  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b MCGILL UNIVERSITY   (Canada)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; DNA DIRECTED RNA POLYMERASE III; ESTRADIOL; FOLLITROPIN; GROWTH HORMONE; HYDROCORTISONE; LIOTHYRONINE; LUTEINIZING HORMONE; PROLACTIN; SOMATOMEDIN C; TESTOSTERONE; THYROTROPIN; THYROXINE;

4H SYNDROME; ADULT; ARTICLE; CASE REPORT; DEMYELINATING DISEASE; ENZYME SUBUNIT; GENE; GENE MUTATION; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HORMONE DETERMINATION; HUMAN; HYPODONTIA; HYPOGONADOTROPIC HYPOGONADISM; HYPOMYELINATION; LEUKODYSTROPHY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; POLR3A GENE; PRIORITY JOURNAL; SOUTHERN EUROPE; TEACHING HOSPITAL; TOOTH ERUPTION;

ANODONTIA; ATAXIA; BRAIN; DEMYELINATING DISEASES; DNA MUTATIONAL ANALYSIS; DWARFISM, PITUITARY; HUMANS; HYPOGONADISM; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MUTATION, MISSENSE; RNA POLYMERASE III; YOUNG ADULT;

EID: 84863788668     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.1963     Document Type: Article

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