Case Reports in Genetics

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Table of Contents

Table of Contents

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 -
Special Issue
Volume 2020
- Article ID 6630300
- Case Series

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

D. Hettiarachchi | Hetalkumar Panchal | ... | V. H. W. Dissanayake

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8813344
- Case Report

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia

Imane Smaili | Imane Hajjaj | ... | Ahmed Bouhouche

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8897541
- Case Series

Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin

Marie Zerjav | Autumn DiAdamo | ... | Peining Li

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8860863
- Case Report

Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation

Misty Ruppert | John Pyun | ... | David Sierpina

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8877722
- Case Report

Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors

Hiroshi Kobayashi | Masahiro Shin | ... | Sakae Tanaka

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 4708976
- Corrigendum

Corrigendum 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 2020
- Article ID 8843410
- Case Report

Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

Manuela Quiroga-Carrillo | Cristian Correa-Arrieta | ... | Fernando Suarez-Obando

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8873219
- Case Report

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

G. N. Cerbino | L. Abou Assali | ... | M. V. Rossetti

Case Reports in Genetics -
Special Issue
Volume 2020
- Article ID 8894518
- Case Report

Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka

Maheshi Wijayabandara | Champika Gamakaranage | Dineshani Hettiarachchi

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