| dc.contributor.author | Ramineni, AK | |
| dc.contributor.author | Burgess, T | |
| dc.contributor.author | Cruickshanks, P | |
| dc.contributor.author | Coman, D | |
| dc.date.accessioned | 2020-12-10T01:36:41Z | |
| dc.date.available | 2020-12-10T01:36:41Z | |
| dc.date.issued | 2019-02-01 | |
| dc.identifier | pii: CCR31970 | |
| dc.identifier.citation | Ramineni, 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.issn | 2050-0904 | |
| dc.identifier.uri | http://hdl.handle.net/11343/253742 | |
| dc.description.abstract | We 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.language | English | |
| dc.publisher | WILEY | |
| dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
| dc.title | A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature | |
| dc.type | Journal Article | |
| dc.identifier.doi | 10.1002/ccr3.1970 | |
| melbourne.affiliation.department | Paediatrics (RCH) | |
| melbourne.source.title | Clinical Case Reports | |
| melbourne.source.volume | 7 | |
| melbourne.source.issue | 2 | |
| melbourne.source.pages | 304-310 | |
| dc.rights.license | CC BY | |
| melbourne.elementsid | 1366125 | |
| melbourne.contributor.author | Burgess, Trent | |
| dc.identifier.eissn | 2050-0904 | |
| melbourne.accessrights | Open Access | |
