Prenatal diagnosis of <scp>KAT6A</scp> syndrome in two fetuses with congenital heart disease-Reference-Cited by-同舟云学术

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Prenatal diagnosis of KAT6A syndrome in two fetuses with congenital heart disease

Published:2023-01 Issue:1 Volume:61 Page:114-116
ISSN:0960-7692
Container-title:Ultrasound in Obstetrics & Gynecology
language:en
Short-container-title:Ultrasound in Obstet & Gyne

Author:

Agarwal U.¹^ORCID,Lim J.²,Pottinger C.³,Suk E.‐K.⁴,Chaoui R.⁵^ORCID

Affiliation:

1. Department of Fetal Medicine Liverpool Women's NHS Foundation Trust Liverpool UK

2. Alder Hey Children's Hospital Liverpool UK

3. All Wales Medical Genetics Service Wrexham Maelor Hospital Wrexham UK

4. Center for Human Genetics Berlin Germany

5. Center for Prenatal Diagnosis Berlin Germany

Publisher

Wiley

Subject

Obstetrics and Gynecology,Radiology, Nuclear Medicine and imaging,Reproductive Medicine,General Medicine,Radiological and Ultrasound Technology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/uog.26062

Reference8 articles.

1. COngenital heart disease and the Diagnostic yield with Exome sequencing ( CODE ) study: prospective cohort study and systematic review

2. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

3. KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

4. De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

5. Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Cited by 2 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. Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome;European Journal of Medical Genetics;2024-02

2. KAT6Amutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid model;2023-06-18

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