Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
نویسندگان
چکیده
منابع مشابه
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
Interstitial deletions of the long arm of chromosome 3 have, to our knowledge, been reported in only eleven patients; detailed genotype- phenotype correlations are not well established. Here we describe a case with interstitial deletion involving 3q25.33 region. Dysmorphic features and developmental delay lead to clinical genetic and enzyme assessment. Low alpha-hexosaminidase level is also not...
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ژورنال
عنوان ژورنال: BioMedicine
سال: 2014
ISSN: 2211-8039
DOI: 10.7603/s40681-014-0007-0