| dc.contributor.author | Ramineni, Anand K | |
| dc.contributor.author | Burgess, Trent | |
| dc.contributor.author | Cruickshanks, Penny | |
| dc.contributor.author | Coman, David | |
| dc.date.accessioned | 2019-08-29T04:17:55Z | |
| dc.date.available | 2019-08-29T04:17:55Z | |
| dc.date.issued | 2019 | |
| dc.identifier.issn | 2050-0904 | en_US |
| dc.identifier.doi | 10.1002/ccr3.1970 | en_US |
| dc.identifier.uri | http://hdl.handle.net/10072/386786 | |
| 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). | en_US |
| dc.description.peerreviewed | Yes | en_US |
| dc.language | English | en_US |
| dc.language.iso | eng | |
| dc.publisher | Wiley | en_US |
| dc.relation.ispartofpagefrom | 304 | en_US |
| dc.relation.ispartofpageto | 310 | en_US |
| dc.relation.ispartofissue | 2 | en_US |
| dc.relation.ispartofjournal | Clinical Case Reports | en_US |
| dc.relation.ispartofvolume | 7 | en_US |
| dc.subject.keywords | Science & Technology | en_US |
| dc.subject.keywords | Life Sciences & Biomedicine | en_US |
| dc.subject.keywords | Medicine, General & Internal | en_US |
| dc.subject.keywords | General & Internal Medicine | en_US |
| dc.subject.keywords | 9q microdeletion | en_US |
| dc.title | A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature | en_US |
| dc.type | Journal article | en_US |
| dc.type.description | C1 - Articles | en_US |
| dcterms.bibliographicCitation | Ramineni, 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. 304-310 | en_US |
| dcterms.dateAccepted | 2018-11-22 | |
| dcterms.license | http://creativecommons.org/licenses/by/4.0/ | en_US |
| dc.date.updated | 2019-08-29T04:14:09Z | |
| dc.description.version | Version 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.hasfulltext | Full Text | |
| gro.griffith.author | Coman, Dave J. | |
