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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 773, doi. 10.1002/ajmg.a.61495
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- Article
A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2382, doi. 10.1002/ajmg.a.40431
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- Publication type:
- Article