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

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

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 sugges...

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Bibliographic Details
Main Authors: Nicholas L Rider, Bertrand eBoisson, Soma eJyonouchi, Eric eHanson, Sergio eRosenzweig, Jean-Laurent eCasanova, Jordan eOrange
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-01-01
Series:Frontiers in Pediatrics
Subjects:
Ectodermal Dysplasia
Primary immunodeficiency
Chronic diarrhea
Antibody deficiency
Trichorrhexis nodosa
Trichohepatoenteric Syndrome
Online Access:http://journal.frontiersin.org/Journal/10.3389/fped.2015.00002/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fped.2015.00002/full

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