Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature-Reference-Cited by-同舟云学术

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Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature

Published:2019-12-11 Issue:2 Volume:182 Page:365-373
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wild K. Taylor¹²^ORCID,Goldstein Amy C.¹³⁴,Muraresku Colleen³,Ganetzky Rebecca D.¹³⁴

Affiliation:

1. Division of Human GeneticsThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

2. Division of NeonatologyThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

3. Mitochondrial Medicine Frontier ProgramThe Children's Hospital of Philadelphia Philadelphia Pennsylvania

4. Department of Pediatrics, The Perelman School of MedicineUniversity of Pennsylvania Philadelphia Pennsylvania

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61433

Reference22 articles.

1. Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome

2. Juvenile Pearson Syndrome

3. Biochemical abnormalities in Pearson syndrome

4. Mitochondrial hepatopathies in the newborn period

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