دورية أكاديمية
Case of mandibuloacral dysplasia with type B lipodystrophy
| العنوان: | Case of mandibuloacral dysplasia with type B lipodystrophy |
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| المؤلفون: | Sanober Burzin Daruwalla, Rachita S Dhurat, Smita Ghate, Rutuja Arali |
| المصدر: | Indian Journal of Paediatric Dermatology, Vol 22, Iss 4, Pp 349-351 (2021) |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Dermatology LCC:Pediatrics |
| مصطلحات موضوعية: | lamin type a, lamin c, child, progeria, mandibuloacral dysplasia with type b lipodystrophy, Dermatology, RL1-803, Pediatrics, RJ1-570 |
| الوصف: | Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature. Cutaneous manifestations of these disorders vary broadly. Case report: We present a genetically confirmed case of MAD Type B in a two year-old boy born out of second degree consanguinity. Discussion: The report aims to increase awareness of the rare condition and emphasize the utility of genetic analysis in differentiating it from other differentials with a phenotypic overlap. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2319-7250 |
| Relation: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=4;spage=349;epage=351;aulast=Daruwalla; https://doaj.org/toc/2319-7250 |
| DOI: | 10.4103/ijpd.IJPD_77_20 |
| URL الوصول: | https://doaj.org/article/65f6f836692142e19ef5fbff6382f7d4 |
| رقم الأكسشن: | edsdoj.65f6f836692142e19ef5fbff6382f7d4 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 23197250 |
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| DOI: | 10.4103/ijpd.IJPD_77_20 |