Full list of author information is available at the end of the articledelay Background Patients presenting with developmental delay and multiple dysmorphic features are a common diagnostic challenge in the genetics clinic. Over the past decade, many new genetic syndromes have been identified within this area. A signifi-cant number of these have been linked to genes involved in histone modification and chromatin remodeling. These include: Kabuki syndrome types 1 and 2 [MIM:147920 and 300867] [1,2], Kleefstra syndrome [MIM: 610253] [3], KAT6B-related disorders [MIM: 606170 and 603736] [4], Weaver syndrome [MIM: 277590] [5], HDAC8-related dis-orders [MIM:30882 and 309585] [6-8], and Wiedemann-Steiner syndrome [MIM: 605130] [9]. These along wit...
Abstract: Recently, autism-related research has focused on the identification of various genes and d...
textabstractContext: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in whic...
syndromes associated with overgrowth in childhood Review article Overgrowth syndromes comprise a div...
Full list of author information is available at the end of the articleBackground A number of neurode...
Full list of author information is available at the end of the articleBackground Williams syndrome (...
Full list of author information is available at the end of the articleBackground The association bet...
Full list of author information is available at the end of the articleBackground MKS is an autosomal...
Full list of author information is available at the end of the articleBackground Neurodegeneration w...
Full list of author information is available at the end of the articleBackground Deletion of the sub...
Rett syndrome is a neurodevelopmental disorder characterized by cognitive and adaptive regression wi...
International audienceCONTEXT: Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, ...
Full list of author information is available at the end of the articleBackground Autism is a behavio...
To access publisher's full text version of this article click on the hyperlink belowhe epigenetic ma...
Full list of author information is available at the end of the articleBackground Leber’s hereditary ...
Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is c...
Abstract: Recently, autism-related research has focused on the identification of various genes and d...
textabstractContext: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in whic...
syndromes associated with overgrowth in childhood Review article Overgrowth syndromes comprise a div...
Full list of author information is available at the end of the articleBackground A number of neurode...
Full list of author information is available at the end of the articleBackground Williams syndrome (...
Full list of author information is available at the end of the articleBackground The association bet...
Full list of author information is available at the end of the articleBackground MKS is an autosomal...
Full list of author information is available at the end of the articleBackground Neurodegeneration w...
Full list of author information is available at the end of the articleBackground Deletion of the sub...
Rett syndrome is a neurodevelopmental disorder characterized by cognitive and adaptive regression wi...
International audienceCONTEXT: Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, ...
Full list of author information is available at the end of the articleBackground Autism is a behavio...
To access publisher's full text version of this article click on the hyperlink belowhe epigenetic ma...
Full list of author information is available at the end of the articleBackground Leber’s hereditary ...
Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is c...
Abstract: Recently, autism-related research has focused on the identification of various genes and d...
textabstractContext: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in whic...
syndromes associated with overgrowth in childhood Review article Overgrowth syndromes comprise a div...