Conradi–Hunermann syndrome: A rare case of chondrodysplasia punctata

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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Bibliographic Details
Main Authors: Rajkumar Motiram Meshram, Akhilesh A Dandale, Lakshmikant A Rohadkar, Ravi N Chirag
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Indian Journal of Paediatric Dermatology
Subjects:
Chondrodysplasia punctata
Conradi–Hunermann syndrome
emopamil-binding protein gene
Online Access: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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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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