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Conference Paper: Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?

TitleHomozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?
Authors
Ying, DShek, NWMChu, YWYYeung, KSLeung, KCTang, MHYKan, ASYChan, YKChung, BHY
KeywordsCHARGE syndrome
Coffin-Siris syndrome
Congenital malformations
Craniofacial defects
Minor anomalies
Morphogenesis
Issue Date2015
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
The 35th Annual David W. Smith Workshop on Malformations and Morphogenesis, Madison, WI., 26-29 July 2014. In American Journal of Medical Genetics Part A, 2015, v. 167 n. 8, p. 1698 How to Cite?
DOI: http://dx.doi.org/10.1002/ajmg.a.37107
Descriptionpp. 1685-1740 of this journal issue entitled: 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting
Persistent Identifierhttp://hdl.handle.net/10722/201337
ISSN
1552-4825
2023 Impact Factor: 1.7
2023 SCImago Journal Rankings: 0.718

 

DC FieldValueLanguage
dc.contributor.authorYing, D-
dc.contributor.authorShek, NWM-
dc.contributor.authorChu, YWY-
dc.contributor.authorYeung, KS-
dc.contributor.authorLeung, KC-
dc.contributor.authorTang, MHY-
dc.contributor.authorKan, ASY-
dc.contributor.authorChan, YK-
dc.contributor.authorChung, BHY-
dc.date.accessioned2014-08-21T07:24:31Z-
dc.date.available2014-08-21T07:24:31Z-
dc.date.issued2015-
dc.identifier.citationThe 35th Annual David W. Smith Workshop on Malformations and Morphogenesis, Madison, WI., 26-29 July 2014. In American Journal of Medical Genetics Part A, 2015, v. 167 n. 8, p. 1698-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/201337-
dc.descriptionpp. 1685-1740 of this journal issue entitled: 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting-
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.rightsAmerican Journal of Medical Genetics Part A. Copyright © John Wiley & Sons, Inc.-
dc.subjectCHARGE syndrome-
dc.subjectCoffin-Siris syndrome-
dc.subjectCongenital malformations-
dc.subjectCraniofacial defects-
dc.subjectMinor anomalies-
dc.subjectMorphogenesis-
dc.titleHomozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?-
dc.typeConference_Paper-
dc.identifier.emailYing, D: jonson@hku.hk-
dc.identifier.emailShek, NWM: sheknoel@hku.hk-
dc.identifier.emailChu, YWY: chuwyy@hku.hk-
dc.identifier.emailLeung, KC: gleungkc@hku.hk-
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hk-
dc.identifier.emailKan, ASY: kansya@hku.hk-
dc.identifier.emailChan, YK: ykchanc@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityTang, MHY=rp01701-
dc.identifier.authorityChan, YK=rp00453-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.37107-
dc.identifier.scopuseid_2-s2.0-84937977550-
dc.identifier.hkuros234627-
dc.identifier.volume167-
dc.identifier.issue8-
dc.identifier.spage1698-
dc.identifier.epage1698-
dc.publisher.placeUnited States-
dc.identifier.issnl1552-4825-

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