Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

• Autores principales: Nicholas L Rider (Autor), Bertrand eBoisson (Autor), Soma eJyonouchi (Autor), Eric eHanson (Autor), Sergio eRosenzweig (Autor), Jean-Laurent eCasanova (Autor), Jordan eOrange (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2015-01-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Unbiased genetic diagnosis has increasingly associated seemingly unrelated somatic and immunological phenotypes. We report a male infant who presented within the first year of life with physical growth impairment, feeding difficulties, hyperemesis without diarrhea, and abnormal hair findings suggest...