Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature
Chromosome 17q12 microdeletion syndrome is a contiguous gene deletion syndrome caused by an 1–2 Mb loss, characterized by multicystic dysplastic kidneys or other urinary system anomalies starting in utero, including autism or maturity-onset diabetes of the young in its postnatal phenotype. Here, we...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2022-06-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2021-0025 |