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- Publisher Website: 10.1136/jmg.31.4.325
- Scopus: eid_2-s2.0-0028329089
- PMID: 7915329
- WOS: WOS:A1994NH06100010
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Article: Hirschsprung's Disease Associated With A Deletion Of Chromosome 10 (Q11.2Q21.2): A Further Link With The Neurocristopathies?
| Title | Hirschsprung's Disease Associated With A Deletion Of Chromosome 10 (Q11.2Q21.2): A Further Link With The Neurocristopathies? |
|---|---|
| Authors | |
| Issue Date | 1994 |
| Publisher | BMJ Group. The Journal's web site is located at http://jmg.bmj.com/ |
| Citation | Journal Of Medical Genetics, 1994, v. 31 n. 4, p. 325-327 How to Cite? |
| Abstract | We Report A Patient With Total Colonic Aganglionosis In Association With A Deletion Of Part Of The Long Arm Of Chromosome 10: (Del(10)(Q11.2Q21.2)). This Deletion Includes The Ret Proto-Oncogene, Which Has Recently Been Implicated In Multiple Endocrine Neoplasia Type 2A (Men 2A). The Possible Links Between Hirschsprung's Disease And The Neurocristopathies And The Aetiological Role Of Abnormalities Of Neural Crest Development In These Conditions Are Discussed. |
| Persistent Identifier | http://hdl.handle.net/10722/220787 |
| ISSN | 2021 Impact Factor: 5.941 2020 SCImago Journal Rankings: 2.439 |
| ISI Accession Number ID |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Fewtrell, MS | en_US |
| dc.contributor.author | Tam, PKH | en_US |
| dc.contributor.author | Thomson, AH | en_US |
| dc.contributor.author | Fitchett, M | en_US |
| dc.contributor.author | Currie, J | en_US |
| dc.contributor.author | Huson, SM | en_US |
| dc.contributor.author | Mulligan, LM | en_US |
| dc.date.accessioned | 2015-10-19T03:41:11Z | - |
| dc.date.available | 2015-10-19T03:41:11Z | - |
| dc.date.issued | 1994 | - |
| dc.identifier.citation | Journal Of Medical Genetics, 1994, v. 31 n. 4, p. 325-327 | en_US |
| dc.identifier.issn | 0022-2593 | - |
| dc.identifier.uri | http://hdl.handle.net/10722/220787 | - |
| dc.description.abstract | We Report A Patient With Total Colonic Aganglionosis In Association With A Deletion Of Part Of The Long Arm Of Chromosome 10: (Del(10)(Q11.2Q21.2)). This Deletion Includes The Ret Proto-Oncogene, Which Has Recently Been Implicated In Multiple Endocrine Neoplasia Type 2A (Men 2A). The Possible Links Between Hirschsprung's Disease And The Neurocristopathies And The Aetiological Role Of Abnormalities Of Neural Crest Development In These Conditions Are Discussed. | en_US |
| dc.language | eng | en_US |
| dc.publisher | BMJ Group. The Journal's web site is located at http://jmg.bmj.com/ | en_US |
| dc.relation.ispartof | Journal Of Medical Genetics | en_US |
| dc.title | Hirschsprung's Disease Associated With A Deletion Of Chromosome 10 (Q11.2Q21.2): A Further Link With The Neurocristopathies? | en_US |
| dc.type | Article | en_US |
| dc.identifier.email | Tam, PKH:paultam@hkucc.hku.hk | - |
| dc.identifier.authority | Tam, PKH=rp00060 | - |
| dc.description.nature | link_to_subscribed_fulltext | en_US |
| dc.identifier.doi | 10.1136/jmg.31.4.325 | - |
| dc.identifier.pmid | 7915329 | - |
| dc.identifier.scopus | eid_2-s2.0-0028329089 | - |
| dc.identifier.volume | 31 | - |
| dc.identifier.issue | 4 | - |
| dc.identifier.spage | 325 | - |
| dc.identifier.epage | 327 | - |
| dc.identifier.isi | WOS:A1994NH06100010 | - |
| dc.identifier.issnl | 0022-2593 | - |