Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients-Reference-Cited by-同舟云学术

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Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients

Published:2018-11 Issue:10 Volume:47 Page:1344-1349
ISSN:1536-4828
Container-title:Pancreas
language:en
Short-container-title:Pancreas

Author:

Ye Ziqing,Zhou Ying,Huang Ying,Sun Hua,Wang Huijun,Wu Bingbing

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Endocrinology,Hepatology,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference34 articles.

1. Exocrine pancreatic insufficiency in adults: a shared position statement of the Italian Association for the Study of the Pancreas;World J Gastroenterol,2013

2. Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene;Hum Mutat,2017

3. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features;J Clin Invest,2017

4. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome;Blood,2017

5. Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome;J Med Genet,2017

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1. Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum;PLOS ONE;2022-12-13

2. Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum;2021-09-17

3. Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China;Genetics in Medicine;2019-10

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