Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

2q37 microdeletion/deletion syndrome (2q37DS) is one of the most common subtelomeric deletion disorders, caused by a 2q37 deletion of variable size. The syndrome is characterized by a broad and diverse spectrum of clinical findings: characteristic facial dysmorphism, developmental delay/intellectual...

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Bibliographic Details
Main Authors: Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Genes
Subjects:
2q37 deletion
genotype–phenotype correlations
brachydactyly E
intellectual disability
Online Access:https://www.mdpi.com/2073-4425/14/2/465

Internet

https://www.mdpi.com/2073-4425/14/2/465

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