An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

INTRODUCTION: 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Associated problems in 22q11.2 DS may include cardiac abnormalities, immune dysfunction, facial dysmorphism, with endocrine, genitourinary and gastrointestinal problems, and developmental dela...

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Bibliographic Details
Main Authors: Yasemin Denkboy Öngen, Şebnem Özemri Sağ, Şehime Gülsün Temel, Erdal Eren
Format: Article
Language:English
Published: Galenos Yayincilik 2023-09-01
Series:JCRPE
Subjects:
22q11.2 deletion syndrome
digeorge syndrome
hypoparathyroidism
hooded eyelids
immunodeficiency
tetralogy of fallot
vitamin d deficiency
Online Access:https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-92905&look4=

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https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-92905&look4=

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