|
|||||
|
|
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 |
|
| Authors: | Alexandre Fabre Laetitia‐Marie Petit Lars F. Hansen Anne V. Wewer Clothilde Esteve Charlène Chaix Patrice Bourgeois Catherine Badens Anders Paerregaard |
| Affiliation: | 1. Service de Pédiatrie Multidisciplinaire, Hopital de la Timone, APHM, Marseille, France;2. Aix Marseille Univ, INSERM, MMG, Marseille, France;3. Unité de gastro‐entérologie, Hépatologie et Nutrition Pédiatriques, Departement de l'enfant et de l'Adolescent, Hopitaux Universitaires de Geneve, Geneve, Switzerland;4. Department of Paediatrics, Hvidovre University Hospital, Copenhagen, Denmark;5. Service de biologie moléculaire, Hopital de la Timone Enfant, APHM, Marseille, France |
| Abstract: | |
| Keywords: | Ski3 Ski complex SKIV2L syndromic diarrhea tricho‐hepato‐enteric syndrome TTC37 |