Harlequin Ichthyosis: Case Series
Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. Some risk factors include preterm births and consanguinity. Prenatal DNA testing for the ABCA12 mutation aids in diagnosis. Alth...
Saved in:
Main Authors: | Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc |
---|---|
Format: | Article |
Language: | English |
Published: |
Medical Network
2024-04-01
|
Series: | Gynecology Obstetrics & Reproductive Medicine |
Subjects: | |
Online Access: | https://gorm.com.tr/index.php/GORM/article/view/1456 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis
by: Ting-Yu Chang, et al.
Published: (2025-01-01) -
Defying the Odds: A Case of Successfully Treated Harlequin Ichthyosis in Lebanon
by: Bassel Hamam, et al.
Published: (2025-01-01) -
Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma
by: Pauline Bernard, et al.
Published: (2025-01-01) -
Harlequin syndrome associated with mediastinal ganglioneuroma: a case report
by: Aleksandra Czapla, et al.
Published: (2024-12-01) -
A case report of squamous cell carcinoma in ichthyosis hystrix Curth-Macklin
by: Vishalakshi Pandit, et al.
Published: (2024-12-01)