Article
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
American journal of medical genetics - 20 Jan 1997
Saitoh S, Buiting K, Cassidy S B, Conroy J M, Driscoll D J, Gabriel J M, Gillessen-Kaesbach G, Glenn C C, Greenswag L R, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan P K, Schwartz S, Seip J, Williams C A, Nicholls R D
Abstract excerpt
Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-...
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