Publication
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth
| dc.contributor.author | Matoso, E | |
| dc.contributor.author | Ramos, F | |
| dc.contributor.author | Ferrão, J | |
| dc.contributor.author | Pires, LM | |
| dc.contributor.author | Mascarenhas, A | |
| dc.contributor.author | Melo, JB | |
| dc.contributor.author | Carreira, IM | |
| dc.date.accessioned | 2016-12-12T15:27:47Z | |
| dc.date.available | 2016-12-12T15:27:47Z | |
| dc.date.issued | 2014 | |
| dc.description.abstract | We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype. | pt_PT |
| dc.identifier.citation | Mol Cytogenet. 2014 Dec 9;7(1):87. d | pt_PT |
| dc.identifier.doi | 10.1186/s13039-014-0087-2 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.4/1989 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Criança | pt_PT |
| dc.subject | Perturbações do Desenvolvimento | pt_PT |
| dc.subject | Perturbações da Linguagem | pt_PT |
| dc.subject | Proteína FGFRL1 humana | pt_PT |
| dc.title | Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.issue | 1 | pt_PT |
| oaire.citation.startPage | 87 | pt_PT |
| oaire.citation.volume | 7 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |