15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity
| Data(s) |
01/09/2014
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| Resumo |
We report two patients with microdeletions in chromosomal subdomain 15q26.1 encompassing only two genes, CHD2 and RGMA. Both patients present a distinct phenotype with intellectual disability, epilepsy, behavioral issues, truncal obesity, scoliosis and facial dysmorphism. CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients. |
| Formato |
application/pdf |
| Identificador |
http://boris.unibe.ch/65363/1/1-s2.0-S1769721214001359-main.pdf Courage, Carolina; Houge, Gunnar; Gallati, Sabina; Schjelderup, Jack; Rieubland, Claudine (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. European journal of medical genetics, 57(9), pp. 520-523. Elsevier 10.1016/j.ejmg.2014.06.003 <http://dx.doi.org/10.1016/j.ejmg.2014.06.003> doi:10.7892/boris.65363 info:doi:10.1016/j.ejmg.2014.06.003 info:pmid:24932903 urn:issn:1878-0849 |
| Idioma(s) |
eng |
| Publicador |
Elsevier |
| Relação |
http://boris.unibe.ch/65363/ |
| Direitos |
info:eu-repo/semantics/restrictedAccess |
| Fonte |
Courage, Carolina; Houge, Gunnar; Gallati, Sabina; Schjelderup, Jack; Rieubland, Claudine (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. European journal of medical genetics, 57(9), pp. 520-523. Elsevier 10.1016/j.ejmg.2014.06.003 <http://dx.doi.org/10.1016/j.ejmg.2014.06.003> |
| Palavras-Chave | #610 Medicine & health |
| Tipo |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion PeerReviewed |
