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Article: Coffin–Lowry syndrome in Chinese

TitleCoffin–Lowry syndrome in Chinese
Authors
KeywordsChinese
Coffin–Lowry syndrome
RPS6KA3
Issue Date2019
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, 2019, v. 179 n. 10, p. 2043-2048 How to Cite?
AbstractCoffin–Lowry syndrome (CLS) is a well‐described syndrome characterized by intellectual disability, growth retardation, recognizable dysmorphic features, and skeletal changes. It is an X‐linked syndrome where males are more severely affected and females have high variability in clinical presentations. This case series reports nine molecularly confirmed Chinese CLS patients from six unrelated families (three with familial variants and three with de novo variants). There is a wide genotypic spectrum with five novel variants in RPS6KA3 gene. Clinical phenotype and facial features of these Chinese CLS patients are comparable to what has been described in other ethnicities.
Persistent Identifierhttp://hdl.handle.net/10722/276085
ISSN
2019 Impact Factor: 2.125
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorFung, JLF-
dc.contributor.authorRethanavelu, K-
dc.contributor.authorLuk, HM-
dc.contributor.authorHo, MSP-
dc.contributor.authorLo, IFM-
dc.contributor.authorChung, BHY-
dc.date.accessioned2019-09-10T02:55:39Z-
dc.date.available2019-09-10T02:55:39Z-
dc.date.issued2019-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2019, v. 179 n. 10, p. 2043-2048-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/276085-
dc.description.abstractCoffin–Lowry syndrome (CLS) is a well‐described syndrome characterized by intellectual disability, growth retardation, recognizable dysmorphic features, and skeletal changes. It is an X‐linked syndrome where males are more severely affected and females have high variability in clinical presentations. This case series reports nine molecularly confirmed Chinese CLS patients from six unrelated families (three with familial variants and three with de novo variants). There is a wide genotypic spectrum with five novel variants in RPS6KA3 gene. Clinical phenotype and facial features of these Chinese CLS patients are comparable to what has been described in other ethnicities.-
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.subjectChinese-
dc.subjectCoffin–Lowry syndrome-
dc.subjectRPS6KA3-
dc.titleCoffin–Lowry syndrome in Chinese-
dc.typeArticle-
dc.identifier.emailFung, JLF: jasflfs@hku.hk-
dc.identifier.emailLuk, HM: lukhm@hku.hk-
dc.identifier.emailHo, MSP: mspho@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityHo, MSP=rp02049-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.61323-
dc.identifier.pmid31400053-
dc.identifier.scopuseid_2-s2.0-85071149144-
dc.identifier.hkuros302471-
dc.identifier.volume179-
dc.identifier.issue10-
dc.identifier.spage2043-
dc.identifier.epage2048-
dc.identifier.isiWOS:000480987800001-
dc.publisher.placeUnited States-

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