H syndrome with a novel homozygous R134C mutation inSLC29A3gene-Reference-Cited by-同舟云学术

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H syndrome with a novel homozygous R134C mutation inSLC29A3gene

Published:2013-06-23 Issue:7 Volume:52 Page:820-823
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:

Author:

Mohanan Saritha¹,Chandrashekar Laxmisha¹,Semple Robert K.²,Thappa Devinder Mohan¹,Rajesh Nachiappa Ganesh³,Negi Vir S.⁴,Gulati Reena⁵

Affiliation:

1. Department of Skin & STD; Jawaharlal institute of post graduate medical education and research (JIPMER); Puducherry; India

2. Department of Clinical Biochemistry; University of Cambridge; Cambridge; UK

3. Department of Pathology; Jawaharlal institute of post graduate medical education and research (JIPMER); Puducherry; India

4. Department of Clinical Immunology; Jawaharlal institute of post graduate medical education and research (JIPMER); Puducherry; India

5. Department of Paediatrics; Jawaharlal institute of post graduate medical education and research (JIPMER); Puducherry; India

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-4632.2012.05838.x/fullpdf

Reference7 articles.

1. Diabetes mellitus may be the earliest and sole manifestation of the H syndrome;Broshtilova;Diabet Med,2009

2. H syndrome: recently defined genodermatosis with distinct histologic features. A morphologic, histochemical, immunohistochemical and ultrastructural study often cases;Doviner;Am J Dermatopathol,2010

3. H syndrome: novel and recurrent mutations in SLC29A3;Priya;Br J Dermatol,2010

4. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway;Cliffe;Hum Mol Genet,2009

5. The H syndrome is caused by mutations in the nucleoside transporter hENT3;Molho-Pessach;Am J Hum Genet,2008

Cited by 16 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. Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers;Experimental Cell Research;2024-01

2. Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria;BMC Endocrine Disorders;2023-12-14

3. Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H Syndrome: The first case report from Syria;2023-09-25

4. H Syndrome Presenting with Sinus of Valsalva Aneurysm and Possible Founder Mutation (p.Arg134cys) in Indian Patients;Indian Journal of Dermatology;2023-05

5. Unusual facial lesions in H syndrome;Clinical Case Reports;2022-07

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