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- Publisher Website: 10.1097/MCD.0b013e32827425d2
- Scopus: eid_2-s2.0-34548450391
- PMID: 17786121
- WOS: WOS:000249966400010
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Article: A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?
Title | A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus? |
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Authors | |
Keywords | Axial mesodermal dysplasia complex Intellectual disability Mullerian abnormalities Multicystic dysplastic kidney MURCS |
Issue Date | 2007 |
Publisher | Lippincott Williams & Wilkins. The Journal's web site is located at http://www.lww.com/product/?0962-8827 |
Citation | Clinical Dysmorphology, 2007, v. 16 n. 4, p. 271-273 How to Cite? |
Abstract | We report a 15-year-old girl with features of the MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia) association and birth defects not typically associated with MURCS. In addition to seizures and intellectual disability, she has cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate and patent ductus arteriosus. We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis. © 2007 Lippincott Williams & Wilkins, Inc. |
Persistent Identifier | http://hdl.handle.net/10722/170387 |
ISSN | 2023 Impact Factor: 0.4 2023 SCImago Journal Rankings: 0.186 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Tan, TY | en_US |
dc.contributor.author | Whitelaw, C | en_US |
dc.contributor.author | Savarirayan, R | en_US |
dc.date.accessioned | 2012-10-30T06:07:57Z | - |
dc.date.available | 2012-10-30T06:07:57Z | - |
dc.date.issued | 2007 | en_US |
dc.identifier.citation | Clinical Dysmorphology, 2007, v. 16 n. 4, p. 271-273 | en_US |
dc.identifier.issn | 0962-8827 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/170387 | - |
dc.description.abstract | We report a 15-year-old girl with features of the MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia) association and birth defects not typically associated with MURCS. In addition to seizures and intellectual disability, she has cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate and patent ductus arteriosus. We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis. © 2007 Lippincott Williams & Wilkins, Inc. | en_US |
dc.language | eng | en_US |
dc.publisher | Lippincott Williams & Wilkins. The Journal's web site is located at http://www.lww.com/product/?0962-8827 | en_US |
dc.relation.ispartof | Clinical Dysmorphology | en_US |
dc.subject | Axial mesodermal dysplasia complex | - |
dc.subject | Intellectual disability | - |
dc.subject | Mullerian abnormalities | - |
dc.subject | Multicystic dysplastic kidney | - |
dc.subject | MURCS | - |
dc.subject.mesh | Adolescent | en_US |
dc.subject.mesh | Cataract - Complications | en_US |
dc.subject.mesh | Cervical Vertebrae - Abnormalities | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Intellectual Disability - Complications | en_US |
dc.subject.mesh | Kidney - Abnormalities | en_US |
dc.subject.mesh | Limb Deformities, Congenital - Complications | en_US |
dc.subject.mesh | Mullerian Ducts - Abnormalities | en_US |
dc.subject.mesh | Spinal Fusion | en_US |
dc.title | A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus? | en_US |
dc.type | Article | en_US |
dc.identifier.email | Tan, TY:tanty@hku.hk | en_US |
dc.identifier.authority | Tan, TY=rp01380 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1097/MCD.0b013e32827425d2 | en_US |
dc.identifier.pmid | 17786121 | - |
dc.identifier.scopus | eid_2-s2.0-34548450391 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-34548450391&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 16 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.spage | 271 | en_US |
dc.identifier.epage | 273 | en_US |
dc.identifier.isi | WOS:000249966400010 | - |
dc.publisher.place | United States | en_US |
dc.identifier.scopusauthorid | Tan, TY=8567188100 | en_US |
dc.identifier.scopusauthorid | Whitelaw, C=7004304429 | en_US |
dc.identifier.scopusauthorid | Savarirayan, R=7003566196 | en_US |
dc.identifier.issnl | 0962-8827 | - |