Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review.
| Author | |
|---|---|
| Abstract | :
Schaaf-Yang syndrome, a rare imprinted hereditary disease caused by MAGEL2 variants, manifests as developmental delay/intellectual disability, neonatal hypotonia, feeding difficulties, contractures, and autism spectrum disorder. |
| Year of Publication | :
2020
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| Journal | :
Medicine
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| Volume | :
99
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| Issue | :
29
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| Number of Pages | :
e20574
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| Date Published | :
2020
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| ISSN Number | :
0025-7974
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| URL | :
https://doi.org/10.1097/MD.0000000000020574
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| DOI | :
10.1097/MD.0000000000020574
|
| Short Title | :
Medicine (Baltimore)
|
| Download citation |