Article
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Orphanet journal of rare diseases - 2 Dec 2019
Negishi Yutaka, Ieda Daisuke, Hori Ikumi, Nozaki Yasuyuki, Yamagata Takanori, Komaki Hirofumi, Tohyama Jun, Nagasaki Keisuke, Tada Hiroko, Saitoh Shinji
Abstract excerpt
BACKGROUND: Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be solved. We sequenced MAGEL2 in patients suspected Prader-Willi syndrome (PWS) to delineate clinical presentation of SYS. We examined 105 patients with clinically suspected PWS but without a...
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