Publication: An Early Presentation of a Genomic Variant of Mucopolysaccharidoses II in a Female Newborn Baby
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Ritesh | |
| dc.contributor.author | Singh, Harsh Mohinder | |
| dc.date.accessioned | 2026-01-09T08:08:11Z | |
| dc.date.available | 2026-01-09T08:08:11Z | |
| dc.date.issued | 2018 | |
| dc.description | Ritesh Department of Paediatrics, ITFH Tajikistan Harsh Mohinder Singh Base Hospital Barrackpore, North Parganas, West Bengal, India | |
| dc.description.abstract | Abstract: Mucopolysaccharidoses II is a X-linked genetic disorder caused by the deficiency of lysosomal enzyme Iduronate sulfate sulfatase due to mutations of Iduronate 2-sulfatase (IDS) gene which results in accumulation of intralysosomal glycosaminoglycan. X inactivation and gene alterations are known to cause this entity in a female child. We report an unusual case of missense mutation of IDS gene in heterozygous variant with dominant expression in a female neonate presented in early newborn period with incurable severity. X- linked recessive (heterozygous) missense mutation of Exon 8 in IDS gene confirmed a case of Mucopolysaccharidoses II by Sanger sequencing. | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/4184 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Blueberry muffin lesions | |
| dc.subject | iduronate 2-sulfatase | |
| dc.subject | missense mutation | |
| dc.subject | Mucopolysaccharidoses II (OMIM 309900) | |
| dc.subject | female hunter syndrome | |
| dc.title | An Early Presentation of a Genomic Variant of Mucopolysaccharidoses II in a Female Newborn Baby | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 192 | |
| oaire.citation.startPage | 190 | |
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