Nicolaides-Baraitser and Coffin-Siris syndromes are emerging conditions with overlapping clinical features including intellectual disability and typical somatic characteristics, especially sparse hair, low frontal hairline, large mouth with thick and everted lips, and hands and feet anomalies. Since 2012, mutations in genes encoding six proteins of the BAF complex were identified in both conditions.publisher: Elsevier articletitle: Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability journaltitle: Brain and Development articlelink: http://dx.doi.org/10.1016/j.braindev.2014.08.009 content_type: article copyright: Copyright © 2014 The Japanese Society of Child Neurology. Published by ...
Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused ...
Contains fulltext : 110038.pdf (publisher's version ) (Closed access)Potocki-Shaff...
International audiencePurpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SW...
BACKGROUND: Nicolaides-Baraitser and Coffin-Siris syndromes are emerging conditions with overlappin...
Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disabili...
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomali...
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Sir...
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Sir...
Contains fulltext : 202800.pdf (publisher's version ) (Open Access)SMARCC2 (BAF170...
<p>Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, ca...
Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause...
Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in fiv...
Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in fiv...
Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused ...
Coffin–Siris syndrome (CSS) and Nicolaides–Baraitser syndrome (NCBRS) are rare intellect...
Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused ...
Contains fulltext : 110038.pdf (publisher's version ) (Closed access)Potocki-Shaff...
International audiencePurpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SW...
BACKGROUND: Nicolaides-Baraitser and Coffin-Siris syndromes are emerging conditions with overlappin...
Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disabili...
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomali...
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Sir...
De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Sir...
Contains fulltext : 202800.pdf (publisher's version ) (Open Access)SMARCC2 (BAF170...
<p>Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, ca...
Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause...
Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in fiv...
Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in fiv...
Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused ...
Coffin–Siris syndrome (CSS) and Nicolaides–Baraitser syndrome (NCBRS) are rare intellect...
Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused ...
Contains fulltext : 110038.pdf (publisher's version ) (Closed access)Potocki-Shaff...
International audiencePurpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SW...