Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.
作者信息
Sarkozy Anna, Mingarelli Rita, Brancati Francesco, Dallapiccola Bruno
机构信息
Department of Molecular Medicine and Pathology, University La Sapienza, Rome, Italy.
出版信息
Am J Med Genet. 2002 Sep 1;111(4):412-4. doi: 10.1002/ajmg.10577.
PMID:12210302
Abstract
We report on a patient affected by Neuhauser megalocornea-mental retardation (MMR) syndrome, presenting with most of the major manifestations of this disorder, in association with primary hypothyroidism and osteopenia. These symptoms, previously reported in single patients, could be discrete features of MMR syndrome.
摘要
Zotero 插件