Case of mandibuloacral dysplasia with type B lipodystrophy
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 confi...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer Medknow Publications
2021-01-01
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| シリーズ: | Indian Journal of Paediatric Dermatology |
| 主題: | |
| オンライン･アクセス: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2021;volume=22;issue=4;spage=349;epage=351;aulast=Daruwalla |
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