EP300 ‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients-Reference-Cited by-同舟云学术

EP300 ‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients

Published:2020-10-11 Issue:12 Volume:182 Page:2926-2938
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cohen Jennifer L.¹²³^ORCID,Schrier Vergano Samantha A.⁴^ORCID,Mazzola Sarah⁵,Strong Alanna¹²,Keena Beth¹,McDougall Carey¹,Ritter Alyssa¹^ORCID,Li Dong¹,Bedoukian Emma C.¹^ORCID,Burke Leah W.⁶,Hoffman Amber⁷⁸,Zurcher Victoria⁵,Krantz Ian D.¹²,Izumi Kosuke¹²^ORCID,Bhoj Elizabeth¹²^ORCID,Zackai Elaine H.¹²,Deardorff Matthew A.¹²⁹

Affiliation:

1. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA USA

2. Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia PA USA

3. Department of Pediatrics, Division of Medical Genetics Duke University School of Medicine Durham NC USA

4. Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk VA USA

5. Genomic Medicine Institute Cleveland Clinic Cleveland OH USA

6. Department of Pediatrics, Division of Clinical Genetics University of Vermont Larner College of Medicine Burlington VT USA

7. Paul C. Gaffney Division of Pediatric Hospital Medicine Children's Hospital of Pittsburgh Pittsburgh PA USA

8. Department of Pediatrics, Divisions of General Academic Pediatrics and Pediatric Hospital Medicine Nemours Children's Health System Orlando FL USA

9. Department of Pathology Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California Los Angeles CA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61883

Reference26 articles.

1. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

2. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome

3. Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report

4. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

5. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300

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3. Identifying associations between genetic conditions in offspring and pregnancy health complications;Reproductive, Female and Child Health;2024-05-02

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

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