Literature DB >> 23789599

H syndrome with a novel homozygous R134C mutation in SLC29A3 gene.

Saritha Mohanan1, Laxmisha Chandrashekar, Robert K Semple, Devinder Mohan Thappa, Nachiappa Ganesh Rajesh, Vir S Negi, Reena Gulati.   

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Year:  2013        PMID： 23789599     DOI： 10.1111/j.1365-4632.2012.05838.x

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN： 0011-9059            Impact factor:   2.736


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  4 in total

1.  Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome.

Authors:  Ruma Deshpande; Lavanya Parthasarathy; Ashwin Dalal; Vaman Khadilkar; Anuradha Khadilkar
Journal:  Indian J Pediatr       Date:  2015-05-14       Impact factor: 1.967

2.  Unusual facial lesions in H syndrome.

Authors:  Mariem Rekik; Emna Bahloul; Mohamed Ben Rejeb; Khadija Sellami; Slim Charfi; Hamza Chouk; Tahya Boudaouara; Hamida Turki
Journal:  Clin Case Rep       Date:  2022-07-18

Review 3.  The expanding spectrum of rare monogenic autoinflammatory diseases.

Authors:  Isabelle Touitou; Caroline Galeotti; Linda Rossi-Semerano; Véronique Hentgen; Maryam Piram; Isabelle Koné-Paut
Journal:  Orphanet J Rare Dis       Date:  2013-10-16       Impact factor: 4.123

4.  A Tale of H Syndrome with Typical Radiographic Findings.

Authors:  Praneet Pradeep Awake; Lakshmi Chandravathi Penmetcha; Anil Fonseca; Prasad Prabhakar Jawalkar
Journal:  Indian J Dermatol       Date:  2018 Mar-Apr       Impact factor: 1.494
  4 in total

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