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MeSH:(Exocrine Pancreatic Insufficiency/*genetics)

1.A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child.

Jeong Hee LEE ; Sun Hwan BAE ; Jeong Jin YU ; Ran LEE ; Yeo Min YUN ; Eun Young SONG

Journal of Korean Medical Science 2008;23(1):142-145

2.Clinical phenotypes and genotypic spectrum of cystic fibrosis with pancreatic insufficiency in children.

Zhuo Yao GUO ; Jing Long CHEN ; Li Bo WANG ; Li Ling QIAN

Chinese Journal of Pediatrics 2022;60(9):915-919

3.Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review.

Jun SHEN ; Kai LIN ; Yu AN ; Yi-mi WU ; Zhong-wei QIAO ; Hui YU ; Qi-rong ZHU ; Ting ZHANG

Chinese Journal of Pediatrics 2013;51(9):679-683

5.A novel CFTR mutation found in a Chinese patient with cystic fibrosis.

Nan LI ; Pei PEI ; Ding-fang BU ; Bing HE ; Guang-fa WANG

Chinese Medical Journal 2006;119(2):103-109

8.Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency.

Young June CHOE ; Jae Sung KO ; Jeong Kee SEO ; Jae Jun HAN ; Jung Ok SHIM ; Young Yull KOH ; Ran LEE ; Chang Seok KI ; Jong Won KIM ; Jung Ho KIM

Journal of Korean Medical Science 2010;25(1):163-165

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