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dc.contributor.authorRamineni, AK
dc.contributor.authorBurgess, T
dc.contributor.authorCruickshanks, P
dc.contributor.authorComan, D
dc.date.accessioned2020-12-10T01:36:41Z
dc.date.available2020-12-10T01:36:41Z
dc.date.issued2019-02-01
dc.identifierpii: CCR31970
dc.identifier.citationRamineni, A. K., Burgess, T., Cruickshanks, P. & Coman, D. (2019). A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature. CLINICAL CASE REPORTS, 7 (2), pp.304-310. https://doi.org/10.1002/ccr3.1970.
dc.identifier.issn2050-0904
dc.identifier.urihttp://hdl.handle.net/11343/253742
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).
dc.languageEnglish
dc.publisherWILEY
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleA novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature
dc.typeJournal Article
dc.identifier.doi10.1002/ccr3.1970
melbourne.affiliation.departmentPaediatrics (RCH)
melbourne.source.titleClinical Case Reports
melbourne.source.volume7
melbourne.source.issue2
melbourne.source.pages304-310
dc.rights.licenseCC BY
melbourne.elementsid1366125
melbourne.contributor.authorBurgess, Trent
dc.identifier.eissn2050-0904
melbourne.accessrightsOpen Access


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