A new mutation in the C-terminal end of...

American Journal of Medical Genetics Part A 2018 / 01

A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families

Fabre, Alexandre, Petit, Laetitia-Marie, Hansen, Lars F., Wewer, Anne V., Esteve, Clothilde, Chaix, Charlène, Bourgeois, Patrice, Badens, Catherine, Paerregaard, Anders
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Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38618
Date:
January, 2018
File:
PDF, 349 KB
english, 2018
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