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

• Main Authors: Nicholas L Rider (Author), Bertrand eBoisson (Author), Soma eJyonouchi (Author), Eric eHanson (Author), Sergio eRosenzweig (Author), Jean-Laurent eCasanova (Author), Jordan eOrange (Author)
• Format: Book
• Published: Frontiers Media S.A., 2015-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...