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

Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most com...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Lee, Jeong Hee, Bae, Sun Hwan, Yu, Jeong Jin, Lee, Ran, Yun, Yeo Min, Song, Eun Young
Format: Artigo
Jezik:Inglês
Izdano: The Korean Academy of Medical Sciences 2008
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2526486/
https://ncbi.nlm.nih.gov/pubmed/18303216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2008.23.1.142
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki