SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.
Mol Syndromol
; 13(6): 543-550, 2023 Jan.
Article
em En
| MEDLINE
| ID: mdl-36660030
ABSTRACT
Introduction:
Mendelian disorders of the epigenetic machinery are a growing group of disorders exhibiting several overlapping clinical features that are probably due to common abnormalities at the epigenomic level, which lead to downstream convergence at the transcriptomic level. Case presentation Here, we report a new case of short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) syndrome with a severe ocular phenotype and hypogonadism.Conclusion:
Similarities and connections with other mendelian disorders of the epigenetic machinery are highlighted, confirming SBIDDS' enrolment as a new spoke of the epigenetic machinery wheel.
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Base de dados:
MEDLINE
Idioma:
En
Revista:
Mol Syndromol
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália