Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype

ABSTRACT Background Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no sp...

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Bibliographic Details
Main Authors: Maria Elisa Amodeo, Elena Inzaghi, Annalisa Deodati, Stefano Cianfarani
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1644