Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants-Reference-Cited by-同舟云学术

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Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants

Published:2019-07-18 Issue:11 Volume:179 Page:2228-2232
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ferreira Laura D.¹^ORCID,Borges‐Medeiros Rayssa L.¹,Thies Jenny²,Schnur Rhonda E.³,Lam Christina²⁴,Oliveira João R. M.¹⁵^ORCID

Affiliation:

1. Keizo Asami LaboratoryUniversidade Federal de Pernambuco Recife Brazil

2. Division of Genetic MedicineSeattle Children's Hospital Seattle Washington

3. Clinical Genomics Program, GeneDx Gaithersburg Maryland

4. Division of Genetic MedicineUniversity of Washington Seattle Washington

5. Neuropsychiatry DepartmentUniversidade Federal de Pernambuco Recife Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Ciência e Tecnologia do Estado de Pernambuco

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61297

Reference17 articles.

1. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

2. Additional features of unique Primrose syndrome phenotype

3. Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

4. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

5. Mutations in ZBTB20 cause Primrose syndrome

Cited by 5 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. Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome;Molecular Syndromology;2024-03-27

2. Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature;Molecular Genetics & Genomic Medicine;2023-12-12

3. Prenatal Diagnosis of Primrose Syndrome;Journal of Ultrasound in Medicine;2023-11-06

4. Mutations inZBTB20in individuals with persistent stuttering;2022-11-07

5. Primrose syndrome: Characterization of the phenotype in 42 patients;Clinical Genetics;2020-04-20

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