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- Scopus: eid_2-s2.0-0242288533
- PMID: 14594182
- WOS: WOS:000186126200016
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Article: Steroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family
Title | Steroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family |
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Authors | |
Keywords | Mutation Srd5a2 Steroid 5Α-Reductase 2 Deficiency |
Issue Date | 2003 |
Publisher | Freund 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? |
Abstract | We 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 Identifier | http://hdl.handle.net/10722/148359 |
ISSN | 2023 Impact Factor: 1.3 2023 SCImago Journal Rankings: 0.456 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, CY | en_US |
dc.contributor.author | Lam, CW | en_US |
dc.contributor.author | Shek, CC | en_US |
dc.date.accessioned | 2012-05-29T06:12:28Z | - |
dc.date.available | 2012-05-29T06:12:28Z | - |
dc.date.issued | 2003 | en_US |
dc.identifier.citation | Journal of Pediatric Endocrinology and Metabolism, 2003, v. 16 n. 8, p. 1197-1201 | en_US |
dc.identifier.issn | 0334-018X | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/148359 | - |
dc.description.abstract | We 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.language | eng | en_US |
dc.publisher | Freund Publishing House, Ltd. The Journal's web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htm | en_US |
dc.relation.ispartof | Journal of Pediatric Endocrinology and Metabolism | en_US |
dc.subject | Mutation | en_US |
dc.subject | Srd5a2 | en_US |
dc.subject | Steroid 5Α-Reductase 2 Deficiency | en_US |
dc.title | Steroid 5α-reductase 2 deficiency in two generations of a non-consaguineous Chinese family | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lam, CW:ching-wanlam@pathology.hku.hk | en_US |
dc.identifier.authority | Lam, CW=rp00260 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.pmid | 14594182 | - |
dc.identifier.scopus | eid_2-s2.0-0242288533 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0242288533&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 16 | en_US |
dc.identifier.issue | 8 | en_US |
dc.identifier.spage | 1197 | en_US |
dc.identifier.epage | 1201 | en_US |
dc.identifier.isi | WOS:000186126200016 | - |
dc.publisher.place | Israel | en_US |
dc.identifier.issnl | 0334-018X | - |