Coffin–Siris syndrome: Clinical description of two cases

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 ge...

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Detalles Bibliográficos
Autores principales: Hollander, Nina, ten Tusscher, Gavin William
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9755812/
https://www.ncbi.nlm.nih.gov/pubmed/36540875
http://dx.doi.org/10.1002/ccr3.6598
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author Hollander, Nina
ten Tusscher, Gavin William
author_facet Hollander, Nina
ten Tusscher, Gavin William
author_sort Hollander, Nina
collection PubMed
description 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.
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spelling pubmed-97558122022-12-19 Coffin–Siris syndrome: Clinical description of two cases Hollander, Nina ten Tusscher, Gavin William Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-12-15 /pmc/articles/PMC9755812/ /pubmed/36540875 http://dx.doi.org/10.1002/ccr3.6598 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hollander, Nina
ten Tusscher, Gavin William
Coffin–Siris syndrome: Clinical description of two cases
title Coffin–Siris syndrome: Clinical description of two cases
title_full Coffin–Siris syndrome: Clinical description of two cases
title_fullStr Coffin–Siris syndrome: Clinical description of two cases
title_full_unstemmed Coffin–Siris syndrome: Clinical description of two cases
title_short Coffin–Siris syndrome: Clinical description of two cases
title_sort coffin–siris syndrome: clinical description of two cases
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9755812/
https://www.ncbi.nlm.nih.gov/pubmed/36540875
http://dx.doi.org/10.1002/ccr3.6598
work_keys_str_mv AT hollandernina coffinsirissyndromeclinicaldescriptionoftwocases
AT tentusschergavinwilliam coffinsirissyndromeclinicaldescriptionoftwocases

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