Cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome-Reference-Cited by-同舟云学术

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Cholesterol metabolsim defect associated with Conradi-Hunerman-Happle syndrome

Published:2000-11 Issue:11 Volume:39 Page:846-850
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:Int J Dermatol

Author:

DiPreta Edward A.,Smith Kathleen J.,Skelton Henry

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-4362.2000.00095.x/fullpdf

Reference16 articles.

1. Unusual radiographic manifestations of chondrodysplasia punctata

2. Genetic peroxisomal disorders: Why, when, and how to test

3. Abnormal sterol metabolism in patients with Conradi-H�nermann-Happle syndrome and sporadic lethal chondrodysplasia punctata

4. Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

5. Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata

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1. Chondrodysplasia Punctata;Atlas of Genetic Diagnosis and Counseling;2017

2. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis;Pediatric Radiology;2015-02-03

3. Chondrodysplasia Punctata;Atlas of Genetic Diagnosis and Counseling;2015

4. Progressive Early-onset Scoliosis in Conradi Disease;Journal of Pediatric Orthopaedics;2013-03

5. Chondrodysplasia Punctata;Atlas of Genetic Diagnosis and Counseling;2012

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