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

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...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Rekha Aaron, Roopa Kunthavai Chellappa, Sumita Danda
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wolters Kluwer Medknow Publications 2024-08-01
Цуврал:	Journal of Cleft Lip Palate and Craniofacial Anomalies
Нөхцлүүд:	clefts congenital anomalies craniofacial syndromes craniosynostosis mutation phenotype
Онлайн хандалт:	https://journals.lww.com/cpcs/fulltext/2024/11020/analysis_of_phenotypic_characteristics_and.2.aspx
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!