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De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1607, doi. 10.1002/ajmg.a.63175
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Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1376, doi. 10.1002/ajmg.a.62672
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- Article