KBG syndrome: An Australian experience-Reference-Cited by-同舟云学术

KBG syndrome: An Australian experience

Published:2017-04-27 Issue:7 Volume:173 Page:1866-1877
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Murray Natalia¹,Burgess Bronwyn¹,Hay Robin¹,Colley Alison²,Rajagopalan Sulekha²,McGaughran Julie³,Patel Chirag³,Enriquez Annabelle⁴,Goodwin Linda⁵,Stark Zornitza⁶,Tan Tiong⁷,Wilson Meredith⁸,Roscioli Tony⁹,Tekin Mustafa¹⁰¹¹¹²,Goel Himanshu¹

Affiliation:

1. Hunter Genetics; Waratah NSW Australia

2. Department of Clinical Genetics; Liverpool Hospital; NSW Australia

3. Genetic Health Queensland c/-Royal Brisbane and Women's Hospital Herston; QLD Australia

4. Department of Clinical Genetics; Children's Hospital Westmead; Westmead NSW Australia

5. Department of Genetics Southblock; Nepean Hospital; Penrith Australia

6. Victorian Clinical Genetics Services; Murdoch Children's Research Institute; Parkville VIC Australia

7. Murdoch Children's Research Institute Melbourne; VIC Australia

8. Department of Clinical Genetics; Sydney Children's Hospital Network; NSW Australia

9. Garvan Institute of Medical Research; NSW Australia

10. Division of Paediatric Genetics; Ankara University; Ankara Turkey

11. Dr John T McDonald Foundation; Department of Human Genetics; Miami Florida

12. University of Miami School of Medicine; Miami Florida

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. KBG syndrome in a cohort of Italian patients;Brancati;American Journal of Medical Genetics Part A,2004

2. ANKRD11 is a chromatin regulator involved in autism that is essential for neural development;Gallagher;Developmental Cell,2015

3. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11;Goldenberg;American Journal of Medical Genetics Part A,2016

4. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies;Herrmann;Birth Defects Original Article Series,1975

5. Clinical and genetic aspects of KBG syndrome;Low;American Journal of Medical Genetics Part A,2016

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search;Orphanet Journal of Rare Diseases;2024-08-12

2. Natural history of adults with KBG syndrome: A physician-reported experience;Genetics in Medicine;2024-08

3. The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function;Nature Communications;2024-07-01

4. Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype;Epilepsy & Behavior Reports;2024

5. Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome;Annals of Laboratory Medicine;2023-09-04