Harlequin ichthyosis: A case report of severe presentation in Eritrea

Clinical Case Reports

Zemichael Ogbe W¹  Tarig Gasim Mohamed Alarabi² 

[1] Department of Paediatrics and Child Health OCMHS Asmara Eritrea;Unit of Anatomy and Embryology OCMHS Asmara Eritrea;

关键词: ABCA12 gene mutation;    autosomal recessive;    congenital skin abnormalities;    harlequin ichthyosis;   

DOI  :  10.1002/ccr3.3076

来源: DOAJ

【 摘 要 】

Abstract The severe form of harlequin ichthyosis is often lethal in the perinatal period, and it is commonly a product of consanguineous parents. Therefore, in vitro fertilization and pregenetic diagnosis are recommended to avoid the recurrence of the error.

【 授权许可】

Unknown