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检索条件"作者=Paolo Ghirri"
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Different Clinical Phenotypes in Adams-Oliver Syndrome Conservative Approach to Aplasia Cutis: A Report of Two Cases
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International Journal of Clinical Medicine 2012年 第3期3卷 215-219页
作者: Francesca Dini Cristina Tuoni Andrea Nannipieri Sara Lunardi Rosa Teresa Scaramuzzo Laura D’Accavio B. Kuppers A. Valetto A. Bartalena Antonio Boldrini paolo ghirri Cytogenetics and Molecular Genetics Unit University Hospital of Pisa Pisa Italy Dermatology Unit University Hospital of Pisa Pisa Italy Neonatology Unit Mother and Child Department University Hospital of Pisa Pisa Italy Scuola Superiore Sant’Anna Pisa Italy Section of Neonatal Endocrinology and Dysmorphology University Hospital of Pisa Pisa Italy.
Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD), often accompanied by defects in scalp and skull ossifica... 详细信息
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