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Identification of a novel insertion mutation inGATA3with HDR syndrome

โœ Scribed by Yukari Mino; Takashi Kuwahara; Toshifumi Mannami; Keisuke Shioji; Koh Ono; Naoharu Iwai


Book ID
106288035
Publisher
Springer
Year
2005
Tongue
English
Weight
218 KB
Volume
9
Category
Article
ISSN
1342-1751

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## Communicated by Mireille Claustres Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. The SDS disease locus was mapped to chromosome 7q11 and disease-associated m