Female Hunter syndrome caused by a single mutation and familial XCI skewing: Implications for other X-linked disorders

Clinical Genetics

Volumn 80, Issue 5, 2011, Pages 459-465

  Kloska, A ^a   Jakobkiewicz Banecka J ^a   Tylki Szymanska A ^b   Czartoryska, B ^c   Weogonekgrzyn, G ^a  

^a UNIVERSITY OF GDA SK   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

MPS II; X linked recessive genetic disorders; XCI skewing

Indexed keywords

ADULT; AGED; ARTICLE; CHILD; CHROMOSOME XQ; CLINICAL ARTICLE; COARSE FACE; CONTROLLED STUDY; FEMALE; FOREHEAD; GENE MUTATION; GENETIC RISK; HAPLOTYPE; HEPATOMEGALY; HUMAN; HUNTER SYNDROME; HYPERACTIVITY; JOINT STIFFNESS; MACROCEPHALY; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SCOLIOSIS; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; CHILD; CHROMOSOMES, HUMAN, X; FEMALE; GENETIC DISEASES, X-LINKED; GLYCOSAMINOGLYCANS; HETEROZYGOTE; HUMANS; IDURONATE SULFATASE; INFANT; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION, MISSENSE; PEDIGREE; X CHROMOSOME INACTIVATION;

EID: 80053482618     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01574.x     Document Type: Article

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