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 suggest...

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Detalles Bibliográficos
Autores principales: Rider, Nicholas L., Boisson, Bertrand, Jyonouchi, Soma, Hanson, Eric P., Rosenzweig, Sergio D., Casanova, Jean-Laurent, Orange, Jordan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311608/
https://www.ncbi.nlm.nih.gov/pubmed/25688341
http://dx.doi.org/10.3389/fped.2015.00002

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