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Case report

First published 2025

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants

Azita Tavasoli, Shayan Eghdami, Maryam Kachuei [...]

Sage Open Medical Case Reports

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Case report

First published 2020-6

Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants

Sakil Kulkarni, Brooj Abro, Maria Laura Duque Lasio [...]

Pediatric and Developmental Pathology

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Case report

First published 2023-9

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait

Yunting Lin, Xiaodan Chen, Cuili Liang [...]

European Journal of Ophthalmology

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Case report

First published 2024-7

Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1

Yanchen Zhang, Zhixing Li, Bing Lin [...]

European Journal of Ophthalmology

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Research article

First published 2019-07

Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism

Mariano Martín, Carlos Eduardo Bernal Barquero, Romina Celeste Geysels [...]

Thyroid®

Open access

Research article

First published 2022-09

Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients

Jiafeng Yao, Hao Gu, Wenjun Mou [...]

International Journal of Immunopathology and Pharmacology

Open access

Research article

First published 2025

Chronic Benign Tubular Albuminuria From Compound Heterozygous Variants in CUBN : A Case Report

Adam Pietrobon, Mark D. Elliott

Canadian Journal of Kidney Health and Disease

Open access

Research article

First published 2020

Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency

Adiratna Mat Ripen, Hamidah Ghani, Chai Teng Chear [...]

Sage Open Medicine

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Case report

First published 2025-7

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous POLG Variants: Case Presentation and Review of the Literature

Laura S. Finn, Amy Goldstein, Holly L. Hedrick

Pediatric and Developmental Pathology

Open access

Research article

First published 2023-12

Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report

Ya’nan Zhang, Xinyi Guo, Ling Hao [...]

Journal of International Medical Research

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