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Coffin–Siris syndrome: Clinical description of two cases.
- Source :
-
Clinical Case Reports . Dec2022, Vol. 10 Issue 12, p1-4. 4p. - Publication Year :
- 2022
-
Abstract
- Coffin–Siris syndrome is a rare disorder, which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin–Siris syndrome, and the expression of these features is diverse. We describe two cases with Coffin–Siris syndrome with mutations in the ARID1A gene, with dissimilar presentation and clinical course. [ABSTRACT FROM AUTHOR]
- Subjects :
- *SYNDROMES
*SYMPTOMS
*GENETIC mutation
*GENETIC testing
Subjects
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 10
- Issue :
- 12
- Database :
- Academic Search Index
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- 161085279
- Full Text :
- https://doi.org/10.1002/ccr3.6598