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Orphanet journal of rare diseases, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 124 - 13
Rare diseases affecting the teeth, the oral cavity and the face are numerous, each of them present specific characteristics, and is a life-long condition. The... 
Rare diseases | Agenesis | Analysis | Research | Children | Health aspects | Quality of life | Adolescence | Prostheses | Transplants & implants | Teeth | Patients | Children & youth | Oral cavity | Oral hygiene | Questionnaires | Anxiety | Rehabilitation | Dental care | Sociodemographics | Cleft | Oral manifestation | Oral health-related quality of life (OHRQoL) | Child | Rare disease
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 2019, Volume 10, Issue MAY, p. 504
Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be... 
Human | Rare diseases | NGS (next generation sequencing) | Skeletal dysplasia | Amelogenesis imperfecta | rare diseases | human | skeletal dysplasia | amelogenesis imperfecta
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2015, Volume 53, Issue 2, pp. 98 - 110
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2014, Volume 24, Issue 11, pp. 3038 - 3049
Journal Article
Revue d'Orthopédie Dento-Faciale, ISSN 0337-9736, 10/2013, Volume 47, Issue 4, pp. 409 - 420
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2019, Volume 1922, pp. 407 - 452
Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may... 
Rare diseases | Dental anomalies | Genetic variations | High-throughput sequencing | NextSeq 550 | Liquid capture | Syndromes | Genetics | Gene panel | Mendelian disorders | Probe enrichment | Index Medicus
Journal Article
Molecular Syndromology, ISSN 1661-8769, 12/2014, Volume 5, Issue 6, pp. 293 - 298
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy,... 
Short Report | Mutations | Amelogenesis imperfecta | Leucine zipper domain | Epilepsy | Kohlschütter-Tönz syndrome | ROGDI
Journal Article