| The H syndrome. | |
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MedLine Citation:
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PMID: 20199414 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The H syndrome is a recently defined autosomal recessive genodermatosis caused by mutations in the nucleoside transporter hENT3. It is characterized by cutaneous changes of progressive sclerosis, hyperpigmentation, and hypertrichosis that follow a specific pattern and are associated with multiple systemic manifestations. A case is presented and a brief review is introduced based on the few related reports. |
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Authors:
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Ekramy A El-Khateeb |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Pediatric dermatology Volume: 27 ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2010 Jan-Feb |
Date Detail:
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Created Date: 2010-03-04 Completed Date: 2010-06-02 Revised Date: 2011-01-11 |
Medline Journal Info:
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Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 65-8 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Venereology and Andrology, Ain Shams University, Cairo, Egypt. krmhmd@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bone Diseases
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genetics*,
radiography Female Humans Hyperpigmentation / genetics*, pathology Hypertrichosis / genetics*, pathology Nucleoside Transport Proteins / genetics* Skin Diseases, Genetic / genetics*, pathology Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Nucleoside Transport Proteins; 0/SLC29A3 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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