Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1055-1059

  Brusius Facchin, Ana Carolina ^a,b   De Souza, Carolina Fischinger Moura ^a   Schwartz, Ida Vanessa D ^a,b   Riegel, Mariluce ^a   Melaragno, Maria Isabel ^c   Correia, Patrícia ^d   Moraes, Lúcia Marques ^d   Llerena, Juan ^d   Giugliani, Roberto ^a,b   Leistner Segal, Sandra ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d INSTITUTO OSWALDO CRUZ   (Brazil)

Author keywords

Deletion; Hunter syndrome; Mucopolysaccharidosis II; Mutation analysis; SNP array

Indexed keywords

GENOMIC DNA; GLYCOSAMINOGLYCAN;

ADOLESCENT; AFF2 GENE; AMPLICON; ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION X; CHROMOSOME DUPLICATION; CHROMOSOME XQ; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA DETERMINATION; DSX1113 GENE; EXON; FRAXA GENE; FRAXE GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE; HEARING LOSS; HUMAN; HUNTER SYNDROME; IDURONATE 2 SULFATASE GENE; KARYOTYPE; MALE; MAMLD1 GENE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MOTOR DYSFUNCTION; MYOTUBULAR MYOPATHY 1 GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 84859938798     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35271     Document Type: Article

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