3 documents found, page 1 of 1
Dunnigan-type familial partial lipodystrophy in a large Portuguese Kindred
Moldovan, O.; Alves, A.C.; Medeiros, A.M.; Sousa, A.B.; Bourbon, MafaldaThe lipodystrophies are a clinically heterogeneous group of acquired or inherited disorders affecting adipose tissue distribution. Dunnigan-type familial partial lipodystrophy (FPLD2, OMIM 151660, the most prevalent subtype) is a rare autosomal dominant disease, characterized by selective absence of adipose tissue in the extremities and trunk and accumulation of fat in the face, neck and supraclavicular fossa. ...
Classification of the dup 15q13.3 CNV: A National data collection
Sousa, A.; Serafim, S.; Santos, R.; Custódio, S.; Ávila, M.; Dupont, J.; Dias P, P.; Moldovan, O.; Melo, J.; Ferreira, S.; Pires, L.; Leão, M.; Sá, S.Introduction: The proximal region 15q11q14 is one of the most unstable regions in the human genome, with six recognizable break points (BP1-BP6). In 15q13.3 there is a recurrent small CNV (BP4-BP5) consisting of a 350-680 Kb duplication, encompassing the CHRNA7 gene, which encodes the alpha 7 subunit of the neuronal nicotinic acetylcholine receptor. Although microdeletions of CHRNA7 are known to cause intellect...
Dunnigan-type familial partial lipodystrophy in a large Portuguese kindred
Moldovan, O.; Alves, A.C.; Medeiros, A.M.; Sousa, A.B.; Bourbon, M.INTRODUCTION : The lipodystrophies are a clinically heterogeneous group of acquired or inherited disorders affecting adipose tissue distribution. Dunnigan-type familial partial lipodystrophy (FPLD2, OMIM 151660, the most prevalent subtype) is a rare autosomal dominant disease, characterized by selective absence of adipose tissue in the extremities and trunk and accumulation of fat in the face, neck and supracla...