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A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia

Zeren Barış1, Figen Özçay1, Lale Olcay2

  • 1Department of Pediatric Gastroenterology, Başkent University Hospital, Beşevler-Çankaya, Ankara, Turkey.

Journal of Pediatric Genetics
|August 15, 2018
PubMed

Keywords:
SBDS geneShwachman–Diamond syndromecompound heterozygoushypotonia

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