Conradi–Hunermann syndrome: A rare case of chondrodysplasia punctata
Conradi–Hunermann syndrome is a common form of chondrodysplasia punctata, inherited as X-linked dominant disorder of cholesterol metabolism due to mutation of emopamil-binding protein gene resulting in a spectrum of skeletal, cutaneous, and ocular abnormalities. One-day-old premature, cesarean-deliv...
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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
2019-01-01
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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=2019;volume=20;issue=3;spage=255;epage=257;aulast=Meshram |
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