A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5

• Главные авторы: Rosie Lee (Автор), Jung Eun Choi (Автор), Eunji Mun (Автор), Kyung hee Kim (Автор), Sun Ah Choi (Автор), Hae Soon Kim (Автор)
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• Опубликовано: MDPI AG, 2024-03-01T00:00:00Z.
• Предметы: article
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Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4-1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5...