Chanarin Dorfman syndrome: a case report with novel nonsense mutation

Author:

Gupta Neerja,Gothwal Sunil,Satpathy Amit Kumar,Missaglia S.,Tavian D.,Das Prasenjit,Timila Dipsal,Kabra Madhulika

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference17 articles.

1. DorfmanChanarin syndrome;Nanda;Int. J. Dermatol.,1990

2. Dorfman–Chanarin syndrome: a rare neutral lipid storage disease;Tullu;Indian Pediatr.,2000

3. Chanarin Dorfman syndrome neonatal diagnosis and 3-year follow-up;Gupta;Indian Pediatr.,2005

4. Chanarin Dorfman syndrome: clinical report and novel mutation in ABHD5 gene;Tamhankar;J. Postgrad. Med.,2014

5. Acitretin-responsive ichthyosis in Chanarin–Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene;Srinivasaraghavan;Pediatr. Dermatol.,2014

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