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Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus
OBJECTIVES: Congenital diarrhea disorders are a group of genetically diverse and typically autosomal recessive disorders that have yet to be well characterized phenotypically or molecularly. Diagnostic assessments are generally limited to nutritional challenges and histologic evaluation, and many su...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2013
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4170062/ https://ncbi.nlm.nih.gov/pubmed/24280991 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0b013e3182a8ae6c |
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