The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients ; volume:50 ; number:1 ; day:19 ; month:9 ; year:2024 ; pages:1-9 ; date:12.2024
The Italian journal of pediatrics ; 50, Heft 1 (19.9.2024), 1-9, 12.2024
- Creator
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Prada, Elisabetta
Meossi, Camilla
Marafon, Denise Piras
Grilli, Federico
Scuvera, Giulietta
Marchisio, Paola Giovanna
Agostoni, Carlo Virginio
Natacci, Federica
Milani, Donatella
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13052-024-01763-1
- URN
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urn:nbn:de:101:1-2412012106312.706508569105
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:27 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Prada, Elisabetta
- Meossi, Camilla
- Marafon, Denise Piras
- Grilli, Federico
- Scuvera, Giulietta
- Marchisio, Paola Giovanna
- Agostoni, Carlo Virginio
- Natacci, Federica
- Milani, Donatella
- SpringerLink (Online service)
Other Objects (12)
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Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
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A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
Coffin, Geraldine
Siris
Das Coffin-Siris-Syndrom
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
Klinische und genetische Analyse von 22 Patienten mit Coffin-Siris-Syndrom
Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
Entwicklung des Phänotyps vom Kind zum Erwachsenen bei Menschen mit seltenen Syndromen: das Coffin-Siris-Syndrom
A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
Coffin, Geraldine
Siris
Das Coffin-Siris-Syndrom
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
Klinische und genetische Analyse von 22 Patienten mit Coffin-Siris-Syndrom
Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review
Entwicklung des Phänotyps vom Kind zum Erwachsenen bei Menschen mit seltenen Syndromen: das Coffin-Siris-Syndrom
A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
Coffin, Geraldine