Severe hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2)

Journal of Child Neurology

Volumn 27, Issue 6, 2012, Pages 786-790

  Burruss, Day M ^a   Wood, Tim C ^b   Espinoza, Lesby ^c   Dwivedi, Alka ^b   Holden, Kenton R ^a,b  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c Hospital Escuela Materno Infantil   (Honduras)

Author keywords

deletion; Fragile X; gene; Hunter syndrome; IDS FMR1 AFF2

Indexed keywords

CHROMOSOME PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; IDURONATE 2 SULFATASE; PROTEIN FMR2; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION X; CLINICAL FEATURE; DISEASE SEVERITY; FRAGILE X SYNDROME; HEPATOMEGALY; HUMAN; HUNTER SYNDROME; INGUINAL HERNIA; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PATIENT CARE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SNORING;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GLYCOPROTEINS; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS II; NUCLEAR PROTEINS; SEQUENCE DELETION;

EID: 84861321592     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811425860     Document Type: Article

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