CODE Think! Rare Mutations of STX3 Causing Microvillus Inclusion Disease

Author:

John Elizabeth Mary1,Sathyan Sajina1,Pournami Femitha1ORCID,Prithvi Ajai Kumar1,Nandakumar Anand1,Prabhakar Jyothi1,Jain Naveen1

Affiliation:

1. Department of Neonatology, Kerala Institute of Medical Sciences, Trivandrum, Kerala, India

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

Reference5 articles.

1. Pediatric intestinal failure;C P Duggan;N Engl J Med,2017

2. Microvillus inclusion disease: a rare mutation of STX3 in exon 9 causing fatal congenital diarrheal disease;F Pournami;J Pediatr Genet,2020

3. Loss of syntaxin 3 causes variant microvillus inclusion disease;C L Wiegerinck;Gastroenterology,2014

4. Advances in evaluation of chronic diarrhea in infants;J R Thiagarajah;Gastroenterology,2018

5. Towards understanding microvillus inclusion disease;G F Vogel;Mol Cell Pediatr,2016

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