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Rare diseases
DOI:10.1016/j.adaj.2026.03.023.png)
Abstract
En 中文
It is estimated that 30 million people in the United States have a rare disease, and few of these conditions have available cures. The diversity of rare disease etiologies and phenotypes has hindered both diagnostics and treatment approaches. Many rare diseases are caused by pathogenic genetic variations and involve the craniofacial structures and function. Dental care providers are called on to serve the population with rare diseases and support their desire for optimal health. To address these oral health care challenges, JADA is presenting a special issue on rare diseases through a series of articles. These reviews will address some of the more common rare diseases and those that share features such as involvement of the dentition, skeleton, immune system, skin, or facial clefts.
Keywords:
Rare disease
genetic disorders
oral health
oral manifestations
craniofacial syndromes
craniofacial anomalies
special needs patients
CF
Cystic fibrosis
OI
Osteogenesis imperfecta
OMIM
Online Mendelian Inheritance in Man
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156
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Cited Papers
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
GENOME MEDICINE
IF11.2

