File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Steroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family

TitleSteroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family
Authors
KeywordsMutation
Srd5a2
Steroid 5Α-Reductase 2 Deficiency
Issue Date2003
PublisherFreund Publishing House, Ltd. The Journal's web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htm
Citation
Journal Of Pediatric Endocrinology And Metabolism, 2003, v. 16 n. 8, p. 1197-1201 How to Cite?
AbstractWe report a Chinese family in which two family members were diagnosed to have steroid 5α-reductase 2 deficiency. The proband was an 8 year-old boy presenting with isolated micropenis. Mutational analysis revealed a homozygous mutation in exon 4 of the SRD5A2 gene, changing codon 227 from CGA to CAA, i.e. R227Q. The paternal granduncle of the proband has incomplete virilization in adulthood. Besides having the mutation R227Q, he has another mutation in exon 5 of the SRD5A2 gene, changing codon 246 from CGG to CAG, i.e. R246Q. To our knowledge, this is the first reported Chinese family diagnosed with steroid 5α-reductase 2 deficiency with identified molecular defects.
Persistent Identifierhttp://hdl.handle.net/10722/148359
ISSN
2014 Impact Factor: 0.995
2013 SCImago Journal Rankings: 0.334
References

 

DC FieldValueLanguage
dc.contributor.authorLee, CYen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorShek, CCen_US
dc.date.accessioned2012-05-29T06:12:28Z-
dc.date.available2012-05-29T06:12:28Z-
dc.date.issued2003en_US
dc.identifier.citationJournal Of Pediatric Endocrinology And Metabolism, 2003, v. 16 n. 8, p. 1197-1201en_US
dc.identifier.issn0334-018Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/148359-
dc.description.abstractWe report a Chinese family in which two family members were diagnosed to have steroid 5α-reductase 2 deficiency. The proband was an 8 year-old boy presenting with isolated micropenis. Mutational analysis revealed a homozygous mutation in exon 4 of the SRD5A2 gene, changing codon 227 from CGA to CAA, i.e. R227Q. The paternal granduncle of the proband has incomplete virilization in adulthood. Besides having the mutation R227Q, he has another mutation in exon 5 of the SRD5A2 gene, changing codon 246 from CGG to CAG, i.e. R246Q. To our knowledge, this is the first reported Chinese family diagnosed with steroid 5α-reductase 2 deficiency with identified molecular defects.en_US
dc.languageengen_US
dc.publisherFreund Publishing House, Ltd. The Journal's web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htmen_US
dc.relation.ispartofJournal of Pediatric Endocrinology and Metabolismen_US
dc.subjectMutationen_US
dc.subjectSrd5a2en_US
dc.subjectSteroid 5Α-Reductase 2 Deficiencyen_US
dc.titleSteroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese familyen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-0242288533en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0242288533&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume16en_US
dc.identifier.issue8en_US
dc.identifier.spage1197en_US
dc.identifier.epage1201en_US
dc.publisher.placeIsraelen_US

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats