Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

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...

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Bibliographic Details
Main Authors: Gregorio Serra, Luigi Memo, Vincenzo Antona, Giovanni Corsello, Valentina Favero, Paola Lago, Mario Giuffrè
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Italian Journal of Pediatrics
Subjects:
JBS
11q23 deletion
aCGH
Thrombocytopenia
Early diagnosis
Genotype-phenotype correlation
Online Access:https://doi.org/10.1186/s13052-021-01108-2

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