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Hereditary vitamin D-resistant rickets presenting as alopecia.

Abstract:

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147-2A>T novel mutation in the VDR gene consistent with HVDRR. It is important for dermatologis...

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Publication status:
Published

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Publisher copy:
10.1111/pde.12327

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
NDM Experimental Medicine
Role:
Author
Host title:
Pediatric dermatology
Volume:
31
Issue:
4
Pages:
519-520
Publication date:
2014-01-01
Event location:
United States
DOI:
EISSN:
1525-1470
ISSN:
0736-8046
Pubs id:
pubs:166591
UUID:
uuid:21c2b2ff-eeb1-4641-96f9-237e73e0a1e6
Local pid:
pubs:166591
Source identifiers:
166591
Deposit date:
2012-12-19

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