Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP-Reference-Cited by-同舟云学术

Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

Published:2019-03-20 Issue:6 Volume:179 Page:1058-1062
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Banka Siddharth¹²^ORCID,Sayer Rebecca²,Breen Catherine¹²,Barton Stephanie²,Pavaine Julija³⁴,Sheppard Sarah E.⁵,Bedoukian Emma⁶^ORCID,Skraban Cara⁵⁷,Cuddapah Vishnu A⁸,Clayton‐Smith Jill¹²

Affiliation:

1. Division of Evolution and Genomic SciencesSchool of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester Manchester UK

2. Manchester Centre for Genomic MedicineSt Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester Manchester UK

3. Academic Unit of Paediatric RadiologyRoyal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre Manchester UK

4. Division of Informatics, Imaging and Data SciencesSchool of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre Manchester UK

5. Division of Human GeneticsChildren's Hospital of Philadelphia Philadelphia Pennsylvania

6. Roberts Individualized Medical Genetics CenterChildren's Hospital of Philadelphia Philadelphia Pennsylvania

7. Department of PediatricsPerelman School of Medicine, University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania

8. Division of NeurologyChildren's Hospital of Philadelphia Philadelphia Pennsylvania

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61131

Reference15 articles.

1. Lumping and splitting: molecular biology in the genetics clinic

2. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

3. Prevalence and architecture of de novo mutations in developmental disorders

4. CREBBP and p300 lysine acetyl transferases in the DNA damage response

5. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Cited by 24 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. Functional analysis of a novel pathogenic variant in CREBBP associated with bone development;Pediatric Research;2024-08-31

2. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles;Human Genetics and Genomics Advances;2024-07

3. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement;Journal of Medical Genetics;2024-03-12

4. Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs;Molecular Genetics & Genomic Medicine;2023-06-23

5. Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome;European Journal of Human Genetics;2023-05-29