Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype

Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype

ABSTRACT Background The 10q26 microdeletion syndrome (OMIM #609625) is a distinct genomic disorder characterized by a spectrum of clinical features including craniofacial anomalies, developmental delay (DD)/intellectual disability (ID), hypotonia, cardiovascular, and urogenital malformations. Despit...

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Main Authors: Jiasun Su, Shujie Zhang, Wei Li, Yuan Wei, Fei Lin, Chaofan Zhou, Xianglian Tang, Yueyun Lan, Minpan Huang, Qiang Zhang, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Zailong Qin, Peng Huang
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
10q26 microdeletion syndrome
inhibitory synaptic factor 2A
MMP21
unmasking recessive allele
Online Access:https://doi.org/10.1002/mgg3.70082
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https://doi.org/10.1002/mgg3.70082

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