Case Reports in Genetics

Table of Contents: 2021

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 6636855
  • - Case Report

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

Li Xu | Zijuan Peng | ... | Zhengjun Bao
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 2999349
  • - Case Report

Delayed Diagnosis of McCune–Albright Syndrome

Bereket Fantahun | Seblewongel Desta
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 9969071
  • - Case Report

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Justin Kurtz | Joseph Americo Fernandes | ... | Ali B. Naini
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 7133508
  • - Case Series

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

Parminder Kaur | Inusha Panigrahi | ... | Chakshu Chaudhry
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 8197435
  • - Case Report

The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature

Hao Trong Nguyen | Nguyen Nhat Pham | ... | Tu Nguyen Anh Tran
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 9897523
  • - Corrigendum

Corrigendum #2 to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

Jamie H. Choi | Rachel Li | ... | Natario L. Couser
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 5539855
  • - Case Report

Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion

Signe Faurschou | Dorte L. Lildballe | ... | Maria Rasmussen
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 5586072
  • - Case Report

Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma

Christopher S. Hong | Edwin Partovi | ... | Sacit Bulent Omay
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2021
  • - Article ID 8824184
  • - Case Report

A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome

Jinjie Li | Yue Zhang | ... | Liu Yang
Case Reports in Genetics
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Article of the Year Award: Outstanding research contributions of 2021, as selected by our Chief Editors. Read the winning articles.