Analysis of phenotypic characteristics and mutation patterns in syndromic craniofacial anomalies: Insights from a tertiary care medical genetics unit in South India

• Главные авторы: Rekha Aaron (Автор), Roopa Kunthavai Chellappa (Автор), Sumita Danda (Автор)
• Формат: ‌
• Опубликовано: Wolters Kluwer Medknow Publications, 2024-08-01T00:00:00Z.
• Предметы: article
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Context: Craniofacial anomalies (CFAs) are rare congenital anomalies that have a profound impact on social acceptance. Most of the syndromic CFAs are genetic in origin and are the result of alteration in single or multiple genes inherited from parents or de novo. Aims: The main aim of this study was...