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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Amelogenesis imperfecta, type IB, 104500
- Amelogenesis imperfecta, type IC, 204650
- Amelogenesis Imperfecta, Dominant
- autosomal recessive amelogenesis imperfecta
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