Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants-Reference-Cited by-同舟云学术

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Published:2020-08 Issue:8 Volume:22 Page:1338-1347
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Zhang Li Xin,Lemire Gabrielle,Gonzaga-Jauregui Claudia,Molidperee Sirinart,Galaz-Montoya Carolina,Liu David S.,Verloes Alain,Shillington Amelle G.,Izumi Kosuke,Ritter Alyssa L.,Keena Beth,Zackai Elaine,Li Dong,Bhoj Elizabeth,Tarpinian Jennifer M.,Bedoukian Emma,Kukolich Mary K.,Innes A. Micheil,Ediae Grace U.,Sawyer Sarah L.,Nair Karippoth Mohandas,Soumya Para Chottil,Subbaraman Kinattinkara R.,Probst Frank J.,Bassetti Jennifer A.,Sutton Reid V.,Gibbs Richard A.,Brown Chester,Boone Philip M.,Holm Ingrid A.,Tartaglia Marco,Ferrero Giovanni Battista,Niceta Marcello,Dentici Maria Lisa,Radio Francesca Clementina,Keren Boris,Wells Constance F.,Coubes Christine,Laquerrière Annie,Aziza Jacqueline,Dubucs Charlotte,Nampoothiri Sheela,Mowat David,Patel Millan S.,Bracho Ana,Cammarata-Scalisi Francisco,Gezdirici Alper,Fernandez-Jaen Alberto,Hauser Natalie,Zarate Yuri A.,Bosanko Katherine A.,Dieterich Klaus,Carey John C.,Chong Jessica X.,Nickerson Deborah A.,Bamshad Michael J.,Lee Brendan H.,Yang Xiang-Jiao,Lupski James R.,Campeau Philippe M.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-0811-8.pdf

Reference42 articles.

Cited by 34 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. Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome;Journal of Autism and Developmental Disorders;2024-08-17

2. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature;The American Journal of Human Genetics;2024-07

3. A novel nonsense variant of the KAT6B gene associated with cystic hygroma in fetus;2024-06-28

4. Genetic analysis of BRPF1 exon deletion variant causing intellectual developmental disorder with dysmorphic facies and ptosis in a Chinese family;Egyptian Journal of Medical Human Genetics;2024-06-21

5. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review;Pediatric Neurology;2024-06