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
|
| Journal |
:
Medicine
|
| Volume |
:
99
|
| Issue |
:
29
|
| Number of Pages |
:
e20574
|
| Date Published |
:
2020
|
| ISSN Number |
:
0025-7974
|
| URL |
:
https://doi.org/10.1097/MD.0000000000020574
|
| DOI |
:
10.1097/MD.0000000000020574
|
| Short Title |
:
Medicine (Baltimore)
|
| Download citation |
