DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences-Reference-Cited by-同舟云学术

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DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences

Published:2007-03 Issue:3 Volume:127 Page:568-573
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Akiyama Masashi,Titeux Matthias,Sakai Kaori,McMillan James R.,Tonasso Laure,Calvas Patrick,Jossic Frederique,Hovnanian Alain,Shimizu Hiroshi

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference24 articles.

1. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases;Akiyama;Arch Dermatol,2006

2. Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses;Akiyama;Prenat Diagn,1998

3. Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells;Akiyama;J Invest Dermatol,1994

4. Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity;Akiyama;J Invest Dermatol,2006

5. A novel ABCA12 mutation 3270delT causes harlequin ichthyosis;Akiyama;Br J Dermatol,2006

Cited by 57 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review;Case Reports in Dermatological Medicine;2024-01-12

2. Congenital Ichthyosis: Current Approaches to Prenatal Diagnoses;Fetal and Pediatric Pathology;2024-01-10

3. Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review;Anais Brasileiros de Dermatologia;2023-11

4. Whole Exome Sequencing Identifies Novel Pathogenic Variants in TGM1 and ALOX12B in Patients with Hereditary Ichthyosis;2023-07-07

5. Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing;Frontiers in Pediatrics;2023-02-15

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