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Article: Mowat-Wilson syndrome in a Chinese population: A case series
Title | Mowat-Wilson syndrome in a Chinese population: A case series |
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Authors | |
Keywords | Chinese Hirschsprung disease intellectual disability Mowat–Wilson syndrome ZEB2 |
Issue Date | 2020 |
Publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html |
Citation | American Journal of Medical Genetics Part A, 2020, Epub 2020-03-20 How to Cite? |
Abstract | Mowat–Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, microcephaly, epilepsy, and nonobligatory congenital malformations such as Hirschsprung disease, urogenital anomalies, congenital heart disease, eye malformations. This article summarized the clinical features and molecular findings of 15 Chinese MWS patients. The results revealed a higher incidence of congenital heart disease in Chinese MWS patients compared to that previously reported in Caucasian cohorts, while the incidence of Hirschsprung disease and genitourinary malformation appeared to be lower. This suggests possible ethnicity‐related modifying effects in the MWS phenotype. |
Persistent Identifier | http://hdl.handle.net/10722/281803 |
ISSN | 2023 Impact Factor: 1.7 2023 SCImago Journal Rankings: 0.718 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Ho, S | - |
dc.contributor.author | Luk, H-M | - |
dc.contributor.author | Chung, BH-Y | - |
dc.contributor.author | Fung, JL-F | - |
dc.contributor.author | Mak, HH-Y | - |
dc.contributor.author | Lo, IFM | - |
dc.date.accessioned | 2020-03-27T04:22:42Z | - |
dc.date.available | 2020-03-27T04:22:42Z | - |
dc.date.issued | 2020 | - |
dc.identifier.citation | American Journal of Medical Genetics Part A, 2020, Epub 2020-03-20 | - |
dc.identifier.issn | 1552-4825 | - |
dc.identifier.uri | http://hdl.handle.net/10722/281803 | - |
dc.description.abstract | Mowat–Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, microcephaly, epilepsy, and nonobligatory congenital malformations such as Hirschsprung disease, urogenital anomalies, congenital heart disease, eye malformations. This article summarized the clinical features and molecular findings of 15 Chinese MWS patients. The results revealed a higher incidence of congenital heart disease in Chinese MWS patients compared to that previously reported in Caucasian cohorts, while the incidence of Hirschsprung disease and genitourinary malformation appeared to be lower. This suggests possible ethnicity‐related modifying effects in the MWS phenotype. | - |
dc.language | eng | - |
dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html | - |
dc.relation.ispartof | American Journal of Medical Genetics Part A | - |
dc.rights | Preprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. | - |
dc.subject | Chinese | - |
dc.subject | Hirschsprung disease | - |
dc.subject | intellectual disability | - |
dc.subject | Mowat–Wilson syndrome | - |
dc.subject | ZEB2 | - |
dc.title | Mowat-Wilson syndrome in a Chinese population: A case series | - |
dc.type | Article | - |
dc.identifier.email | Luk, H-M: lukhm@hku.hk | - |
dc.identifier.email | Chung, BH-Y: bhychung@hku.hk | - |
dc.identifier.email | Fung, JL-F: jasflf@connect.hku.hk | - |
dc.identifier.email | Lo, IFM: con_cg@dh.gov.hk | - |
dc.identifier.authority | Chung, BH-Y=rp00473 | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1002/ajmg.a.61557 | - |
dc.identifier.scopus | eid_2-s2.0-85082049560 | - |
dc.identifier.hkuros | 309549 | - |
dc.identifier.volume | Epub 2020-03-20 | - |
dc.identifier.isi | WOS:000520755500001 | - |
dc.publisher.place | United States | - |
dc.identifier.issnl | 1552-4825 | - |