Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

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Serval ID
serval:BIB_4FE36232BA2D
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
UNIL/CHUV
Title
Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)
Journal
British Journal of Dermatology
Author(s)
Feldmeyer  L., Mevorah  B., Grzeschik  K. H., Huber  M., Hohl  D.
ISSN
0007-0963 (Print)
Publication state
Published
Issued date
04/2006
Volume
154
Number
4
Pages
766-769
Notes
Case Reports Journal Article Research Support, Non-U.S. Gov't --- Old month value: Apr
Keywords
Adult Base Sequence Chondrodysplasia Punctata/*genetics/pathology Female Frameshift Mutation Humans Ichthyosis, X-Linked/*genetics/pathology Infant, Newborn Steroid Isomerases/genetics
OAI-PMH
oai:serval.unil.ch:BIB_4FE36232BA2D
DOI
10.1111/j.1365-2133.2006.07137.x
Pubmed
16536827
Web of science
000235891300035
Create date
25/01/2008 16:36
Last modification date
20/08/2019 14:05
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