SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome-Reference-Cited by-同舟云学术

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SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

Published:2020-07-24 Issue: Volume:11 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Crippa Milena,Bestetti Ilaria,Maitz Silvia,Weiss Karin,Spano Alice,Masciadri Maura,Smithson Sarah,Larizza Lidia,Low Karen,Cohen Lior,Finelli Palma

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

Reference28 articles.

1. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects;Fahrner;Hum Mol Genet,2019

2. Disorders of transcriptional regulation: an emerging category of multiple malformation syndromes;Izumi;Mol Syndromol,2016

3. Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes;Parenti;Hum Genet,2017

4. Developmental disorders with intellectual disability driven by chromatin dysregulation: clinical overlaps and molecular mechanisms;Larizza;Clin Genet,2019

5. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia;Sirmaci;Am J Hum Genet,2011

Cited by 10 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. A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants;European Journal of Pediatrics;2024-01-03

2. Epigenetic regulation of craniofacial development and disease;Birth Defects Research;2023-11-14

3. Structure, activity and function of the lysine methyltransferase SETD5;Frontiers in Endocrinology;2023-02-17

4. The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities;Frontiers in Neuroscience;2023-02-10

5. Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes;Frontiers in Genetics;2023-01-04

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