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Article: Mowat-Wilson syndrome in a Chinese population: A case series

TitleMowat-Wilson syndrome in a Chinese population: A case series
Authors
KeywordsChinese
Hirschsprung disease
intellectual disability
Mowat–Wilson syndrome
ZEB2
Issue Date2020
PublisherJohn 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?
AbstractMowat–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 Identifierhttp://hdl.handle.net/10722/281803
ISSN
2019 Impact Factor: 2.125
2015 SCImago Journal Rankings: 1.115

 

DC FieldValueLanguage
dc.contributor.authorHo, S-
dc.contributor.authorLuk, H-M-
dc.contributor.authorChung, BH-Y-
dc.contributor.authorFung, JL-F-
dc.contributor.authorMak, HH-Y-
dc.contributor.authorLo, IFM-
dc.date.accessioned2020-03-27T04:22:42Z-
dc.date.available2020-03-27T04:22:42Z-
dc.date.issued2020-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2020, Epub 2020-03-20-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/281803-
dc.description.abstractMowat–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.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.rightsPreprint 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.subjectChinese-
dc.subjectHirschsprung disease-
dc.subjectintellectual disability-
dc.subjectMowat–Wilson syndrome-
dc.subjectZEB2-
dc.titleMowat-Wilson syndrome in a Chinese population: A case series-
dc.typeArticle-
dc.identifier.emailLuk, H-M: lukhm@hku.hk-
dc.identifier.emailChung, BH-Y: bhychung@hku.hk-
dc.identifier.emailFung, JL-F: jasflf@connect.hku.hk-
dc.identifier.emailLo, IFM: con_cg@dh.gov.hk-
dc.identifier.authorityChung, BH-Y=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.61557-
dc.identifier.scopuseid_2-s2.0-85082049560-
dc.identifier.hkuros309549-
dc.identifier.volumeEpub 2020-03-20-
dc.publisher.placeUnited States-

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