Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia

Schaaf-Yang syndrome (SYS) is a recently identified disorder caused by a loss-of-function mutation in a maternally imprinted gene, MAGEL2, at 15q11.2q13. Due to its extreme rarity and wide range of clinical severity, clinical suspicion is difficult for a physician. In the current study, its frequenc...

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Detalles Bibliográficos
Publicado en:Medicine (Baltimore)
Main Authors: Ahn, Hyunji, Seo, Go Hun, Oh, Arum, Lee, Yena, Keum, Changwon, Heo, Sun Hee, Kim, Taeho, Choi, Jeongmin, Kim, Gu-Hwan, Ko, Tae-Sung, Yum, Mi-Sun, Lee, Beom Hee, Choi, In Hee
Formato: Artigo
Idioma:Inglês
Publicado: Lippincott Williams & Wilkins 2020
Assuntos:
3500
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7748310/
https://ncbi.nlm.nih.gov/pubmed/33371171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000023864
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