Meier–Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of <i>ORC6</i> Mutations and the Development of a Prenatal Test

Meier–Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of <i>ORC6</i> Mutations and the Development of a Prenatal Test

Meier–Gorlin syndrome (MGS) is a rare genetic developmental disorder that causes primordial proportional dwarfism, microtia, the absence of or hypoplastic patellae and other skeletal anomalies. Skeletal symptoms overlapping with other syndromes make MGS difficult to diagnose clinically. We describe...

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Bibliographic Details
Main Authors: Maria S. Nazarenko, Iuliia V. Viakhireva, Mikhail Y. Skoblov, Elena V. Soloveva, Aleksei A. Sleptcov, Ludmila P. Nazarenko
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:International Journal of Molecular Sciences
Subjects:
Meier–Gorlin syndrome
Jeune syndrome
<i>ORC6</i>
exon skipping variant
prenatal genetic testing
Online Access:https://www.mdpi.com/1422-0067/23/16/9234

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https://www.mdpi.com/1422-0067/23/16/9234

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