Academic Journal
Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene
| العنوان: | Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene |
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| المؤلفون: | P M Tamhankar, S Iyer, S Sanghavi, U Khopkar |
| المصدر: | Journal of Postgraduate Medicine, Vol 60, Iss 3, Pp 332-334 (2014) |
| بيانات النشر: | Wolters Kluwer Medknow Publications |
| سنة النشر: | 2014 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | ABHD5, Chanarin-Dorfman syndrome, ichthyosis, India, mutation, Medicine |
| الوصف: | Chanarin-Dorfman syndrome (CDS) is a multisystem, autosomal recessive genetic disorder characterized by congenital non-bullous ichthyosiform erythroderma with accumulation of lipid droplets in granulocytes and basal keratinocytes. An 18-month-old female child presented with typical dermatological features of CDS. She was born as a collodion baby. Liver biopsy showed micronodular cirrhosis along with macrovesicular hepatic steatosis. Sequencing of all exons and exon-intron boundaries of the ABHD5 gene showed that the patient was homozygous for a novel mutation g.24947delG (c.773 + 1delG) in intron 5. This is the first Indian child with mutation proven CDS. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0022-3859 0972-2823 |
| Relation: | http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2014;volume=60;issue=3;spage=332;epage=334;aulast=Tamhankar; https://doaj.org/toc/0022-3859; https://doaj.org/toc/0972-2823; https://doaj.org/article/abd34d65c3ee4762a38678f0fa214060 |
| DOI: | 10.4103/0022-3859.138826 |
| الاتاحة: | https://doi.org/10.4103/0022-3859.138826 https://doaj.org/article/abd34d65c3ee4762a38678f0fa214060 |
| رقم الانضمام: | edsbas.176200E2 |
| قاعدة البيانات: | BASE |
| تدمد: | 00223859 09722823 |
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| DOI: | 10.4103/0022-3859.138826 |