病例报告：一例因基因突变导致的婴儿致死型奥尔布赖特遗传性骨营养不良。
Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation.
作者信息
Leclercq Valérie, Benoit Valérie, Lederer Damien, Delaunoy Melanie, Ruiz Marcela, de Halleux Claire, Robaux Olivier, Wanty Catherine, Maystadt Isabelle
机构信息
Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.
Centre de Génétique Humaine ULB Hôpital Erasme Bruxelles Belgium.
出版信息
Clin Case Rep. 2018 Aug 16;6(10):1933-1940. doi: 10.1002/ccr3.1739. eCollection 2018 Oct.
Germline loss-of-function mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, underlying the extremely variable expressivity of this syndrome.
种系功能丧失突变与多种表型相关，这取决于突变等位基因的亲本来源。在此，我们描述了一种1a型或1c型非典型假性甲状旁腺功能减退症的婴儿致死形式，伴有严重的奥尔布赖特遗传性骨营养不良表型，这是该综合征表达高度可变的基础。
Zotero 插件