Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue-Reference-Cited by-同舟云学术

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Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue

Published:2014-02-18 Issue:4 Volume:36 Page:365-368
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Molho-Pessach Vered,Mechoulam Hadas,Siam Rula,Babay Sofia,Ramot Yuval,Zlotogorski Abraham

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810.2014.886272

Reference18 articles.

1. The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations

2. The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

3. H Syndrome: Recently Defined Genodermatosis With Distinct Histologic Features. A Morphological, Histochemical, Immunohistochemical, and Ultrastructural Study of 10 Cases

4. A Case of H Syndrome Showing Immunophenotye Similarities to Rosai–Dorfman Disease

5. Emperipolesis

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cornea and Sclera;Ocular Pathology;2025

2. Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene;Human Genomics;2021-10-17

3. H syndrome: A rare multisystem genodermatosis associated with a novel finding of retinal angioma;Journal of Paediatrics and Child Health;2021-04-24

4. Inherited disorders of lysosomal membrane transporters;Biochimica et Biophysica Acta (BBA) - Biomembranes;2020-12

5. Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome;Pediatric Dermatology;2020-03

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