Novel truncating variants expand the phenotypic spectrum of KAT6B ‐related disorders-Reference-Cited by-同舟云学术

Novel truncating variants expand the phenotypic spectrum of KAT6B ‐related disorders

Published:2018-12-20 Issue:2 Volume:179 Page:290-294
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet Part A

Author:

Brea‐Fernández Alejandro¹^ORCID,Dacruz David²,Eirís Jesús²,Barros Francisco¹³,Carracedo Ángel¹³

Affiliation:

1. Grupo de Medicina XenómicaUniversidad de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Santiago de Compostela Spain

2. Complexo Hospitalario Universitario de Santiago de CompostelaUnidad de Neurología Pediátrica, Departamento de Pediatría Santiago de Compostela Spain

3. Fundación Pública Galega de Medicina Xenómica‐SERGAS Santiago de Compostela Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.60689

Reference11 articles.

2. Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

3. CDKN1C mutations: two sides of the same coin

4. Further delineation of the KAT6B molecular and phenotypic spectrum

5. Say‐barber‐Biesecker‐young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?;Lonardo F.;Clinical Genetics,2017

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