Autosomal recessive ALOX12B gene and consecutive collodion baby.
| Autor: | Thakur K; Obstetrics and Gynecology, GMCH, Chandigarh, India thakur.krishma72@gmail.com., Sehgal A; Obstetrics and Gynecology, GMCH, Chandigarh, India., Goel B; Obstetrics and Gynecology, GMCH, Chandigarh, India., Chaudhary M; Obstetrics and Gynecology, GMCH, Chandigarh, India. |
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| Jazyk: | angličtina |
| Zdroj: | BMJ case reports [BMJ Case Rep] 2024 Mar 21; Vol. 17 (3). Date of Electronic Publication: 2024 Mar 21. |
| DOI: | 10.1136/bcr-2023-257608 |
| Abstrakt: | Autosomal recessive congenital ichthyosis is a type of inherited ichthyosis which is a rare cluster of genetic disorders leading to defective keratinisation. The combined prevalence for lamellar ichthyosis and congenital ichthyosiform erythroderma is almost 1 per 200 000-300 000 people. Among all the mutations in this gene, missense and frameshift mutations are most common which account for 80% of the cases. Our patient had a mutation in R-type arachidonate 12-lipoxygenase gene ( ALOX12B, OMIM*603741 ). Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.) |
| Databáze: | MEDLINE |
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