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dc.contributor.authorRamineni, Anand K
dc.contributor.authorBurgess, Trent
dc.contributor.authorCruickshanks, Penny
dc.contributor.authorComan, David
dc.date.accessioned2019-08-29T04:17:55Z
dc.date.available2019-08-29T04:17:55Z
dc.date.issued2019
dc.identifier.issn2050-0904en_US
dc.identifier.doi10.1002/ccr3.1970en_US
dc.identifier.urihttp://hdl.handle.net/10072/386786
dc.description.abstractWe report a novel 9q31.2q32 (chr9: 109195179‐113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay. Overlapping microdeletions reported in this region also demonstrate facial dysmorphism, skeletal anomalies, cleft palate, and cardiac valvular abnormalities. In comparing these cases, we suggest critical region of chr9: 109711873‐113407621 (hg 18).en_US
dc.description.peerreviewedYesen_US
dc.languageEnglishen_US
dc.language.isoeng
dc.publisherWileyen_US
dc.relation.ispartofpagefrom304en_US
dc.relation.ispartofpageto310en_US
dc.relation.ispartofissue2en_US
dc.relation.ispartofjournalClinical Case Reportsen_US
dc.relation.ispartofvolume7en_US
dc.subject.keywordsScience & Technologyen_US
dc.subject.keywordsLife Sciences & Biomedicineen_US
dc.subject.keywordsMedicine, General & Internalen_US
dc.subject.keywordsGeneral & Internal Medicineen_US
dc.subject.keywords9q microdeletionen_US
dc.titleA novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short statureen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Articlesen_US
dcterms.bibliographicCitationRamineni, AK; Burgess, T; Cruickshanks, P; Coman, D, A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature, Clinical Case Reports, 2019, 7 (2), pp. 304-310en_US
dcterms.dateAccepted2018-11-22
dcterms.licensehttp://creativecommons.org/licenses/by/4.0/en_US
dc.date.updated2019-08-29T04:14:09Z
dc.description.versionVersion of Record (VoR)en_US
gro.rights.copyright© 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.en_US
gro.hasfulltextFull Text
gro.griffith.authorComan, Dave J.


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