Compound heterozygous mutations with novel missenseABCA12mutation in harlequin ichthyosis
Author:
Publisher
BMJ
Subject
General Medicine
Reference16 articles.
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2. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan;Shibata;Pediatr Int,2015
3. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases;Rajpopat;Arch Dermatol,2011
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1. Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype–phenotype correlations and literature review;Molecular Genetics & Genomic Medicine;2024-05
2. A Unique Case of Harlequin Ichthyosis in the Tertiary Health Care System in a Rural Area;Cureus;2023-08-11
3. Harlequin ichthyosis newborn: A case report;SAGE Open Medical Case Reports;2022-01
4. Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes;BMC Medical Genomics;2021-05-26
5. Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report;Frontiers in Genetics;2021-01-12
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