Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson-Reference-Cited by-同舟云学术

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Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson

Published:2023-08-03 Issue:4 Volume:32 Page:175-179
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Miller Stefania A.¹,Solari Andrea P.¹,Alberto Guillermo¹,Benitez Medina Ana C.¹,García Ayré Brenda M.¹,Parisini Daniel¹,Claps Aldana¹,Taboas Melisa¹

Affiliation:

1. National Center of Medical Genetics, National Administration of Laboratories and Institutes of Health, Ministry of Health, Ciudad Autónomade Buenos Aires, Argentina

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.;Brea-Fernández;Am J Med Genet Part A,2018

3. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.;Clayton-Smith;Am J Hum Genet,2011

4. Further delineation of the KAT6B molecular and phenotypic spectrum.;Gannon;Eur J Hum Genet,2015

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.;Richards;Genet Med,2015

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