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| http://dx.doi.org/10.1002/bdra.23098 | DOI Listing |
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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
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Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
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Department of Respiratory Medicine, Faculty of Life Sciences, Kumamoto University, Kumamoto 1-1-1 Honjo, Chuo-ku, 860-8556, Japan.
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Dentistry and Maxillo-Facial Surgery Unit, Department of Surgery, Dentistry, Paediatrics and Gynaecology (DIPSCOMI), University of Verona, Piazzale L.A. Scuro 10, 37134, Verona, Italy.
Introduction: Orofacial cleft impacts jawbone and dental development and function, often with consequences for oral health. The first in this two-part systematic review of the literature on oral health in persons with cleft lip and/or palate focuses on periodontal parameters and composition of oral bacterial flora, while the second analyzes data on dental caries.
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