Prenatal diagnosis of harlequin ichthyosis: a case report

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein A12 gene, and the pattern of inherit...

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Detalhes bibliográficos
Publicado no:Obstet Gynecol Sci
Main Authors: Vijayakumari, Mudunuri, Reddy, Desai. Kamalakar, Routhu, Madhavilatha, Vuchuru, Manasvi, Reddy, Nallamilli Sunitha
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Society of Obstetrics and Gynecology; Korean Society of Contraception and Reproductive Health; Korean Society of Gynecologic Endocrinology; Korean Society of Gynecologic Endoscopy and Minimal Invasive Surgery; Korean Society of Maternal Fetal Medicine; Korean Society of Ultrasound in Obstetrics and Gynecology; Korean Urogynecologic Society 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6962590/
https://ncbi.nlm.nih.gov/pubmed/31970133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5468/ogs.2020.63.1.94
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