Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

• Главные авторы: Gregorio Serra (Автор), Luigi Memo (Автор), Vincenzo Antona (Автор), Giovanni Corsello (Автор), Valentina Favero (Автор), Paola Lago (Автор), Mario Giuffrè (Автор)
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• Опубликовано: BMC, 2021-07-01T00:00:00Z.
• Предметы: article
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Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been report...