Atypical presentations of Shwachman-Diamond syndrome diagnosed by whole exome sequencing and literature reivew
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Asset Subtitle
Presenting Author - Hua Wang, M.D., Ph.D; Co-Author - Subhadra Ramanathan, MS, MSGC;
Meta Tag
Bone/Joint Abnormalities
Exome sequencing
Phenotype
Co-Author Subhadra Ramanathan, MS, MSGC
Presenting Author Hua Wang, M.D., Ph.D
Keywords
Shwachman-Diamond syndrome
SDS
atypical presentations
whole exome sequencing
short stature
global developmental delay
growth hormone deficiency
bilateral coxa vara
skeletal dysplasia
diagnostic tool

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