Clinical and genetic analyses of presumed shwachman-diamond syndrome in Japan

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. SBDS was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. We performed gene...

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Veröffentlicht in:	International journal of hematology 2006-07, Vol.84 (1), p.60-62
Hauptverfasser:	TANEICHI, Hiromichi, KANEGANE, Hirokazu, HORI, Hiroki, KAWASHIMA, Hisashi, INOH, Yoko, KAMIZONO, Junji, ADACHI, Naoto, OSUGI, Yuko, MIZUNO, Haruo, HOTTA, Noriko, YONEYAMA, Hiroshi, NAKASHIMA, Eiji, FUTATANI, Takeshi, IKEGAWA, Shiro, MIYAWAKI, Toshio, OTSUBO, Keisuke, NOMURA, Keiko, SATO, Yuya, HAMA, Asahito, KOJIMA, Seiji, KOHDERA, Urara, NAKANO, Takahide
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Biological and medical sciences Bone Marrow Diseases - diagnosis Bone Marrow Diseases - genetics Child Child, Preschool Exocrine Pancreatic Insufficiency - diagnosis Exocrine Pancreatic Insufficiency - genetics Female Gastroenterology. Liver. Pancreas. Abdomen Hematologic and hematopoietic diseases Humans Infant Japan Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Other diseases. Hematologic involvement in other diseases Other diseases. Semiology Point Mutation Proteins - genetics Syndrome
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