Identifying the
Yong Rok Kim, Jong Bum Park, Yung Jin Lee, Mi Jin Hong, Hyeong Tae Kim, Hyon J. Kim
Ann Rehabil Med. 2017;41(3):505-510. Published online 2017 Jun 29 DOI: https://doi.org/10.5535/arm.2017.41.3.505
|
Citations to this article as recorded by
De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report
Behzad Davarnia, Mohammad Panahi, Bahareh Rahimi, Hassan Anari, Reza Farajollahi, Ehsan Abbaspour Rodbaneh, Farhad Jeddi
Journal of Medical Case Reports.2024;[Epub] CrossRef Clinical heterogeneity of polish patients with KAT6B–related disorder
Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz
Molecular Genetics & Genomic Medicine.2023;[Epub] CrossRef Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes
Naoto Nishimura, Yumi Enomoto, Tatsuro Kumaki, Hiroaki Murakami, Azusa Ikeda, Tomohide Goto, Kenji Kurosawa
Molecular Syndromology.2022; 13(3): 221. CrossRef A neonate with Say–Barber–Biesecker–Young–Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report
Ji Hye Shin, Han Hyuk Lim, Mi Hyeon Gang, Seon Young Kim, Shin-seung Yang, Mea-young Chang
Journal of Genetic Medicine.2021; 18(2): 147. CrossRef Mutación de novo en KAT6B, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje
D.M. Fernández-Mayoralas, B. Calleja-Pérez, S. Álvarez, A. Fernández-Jaén
Neurología.2020; 35(8): 601. CrossRef A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome
Rodrigo Mendez, Marisol Delea, Liliana Dain, Monica Rittler
Clinical Dysmorphology.2020; 29(1): 42. CrossRef Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle G. Shillington, Kosuke Izumi, Alyssa L. Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M. Tarp
Genetics in Medicine.2020; 22(8): 1338. CrossRef De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment
D.M. Fernández-Mayoralas, B. Calleja-Pérez, S. Álvarez, A. Fernández-Jaén
Neurología (English Edition).2020; 35(8): 601. CrossRef The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology
Naama Wiesel-Motiuk, Yehuda G. Assaraf
Drug Resistance Updates.2020; 53: 100729. CrossRef Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum
T. Michael Yates, Claire L.M. Langley, Detelina Grozeva, F. Lucy Raymond, Diana S. Johnson
Clinical Genetics.2019; 95(2): 334. CrossRef The many lives of KATs — detectors, integrators and modulators of the cellular environment
Bilal N. Sheikh, Asifa Akhtar
Nature Reviews Genetics.2019; 20(1): 7. CrossRef
|