Targeted carrier screening for four recessive disorders: high detection rate within a founder population. [electronic resource]
Producer: 20151224Description: 123-8 p. digitalISSN:- 1878-0849
- Adolescent
- Adult
- Arthrogryposis -- diagnosis
- Chondrodysplasia Punctata, Rhizomelic -- diagnosis
- Female
- Founder Effect
- Genes, Recessive
- Genetic Carrier Screening -- methods
- Genetic Counseling
- Genetic Testing -- methods
- Humans
- Male
- Middle Aged
- Netherlands
- Olivopontocerebellar Atrophies -- diagnosis
- Osteogenesis Imperfecta -- diagnosis
- Pedigree
- Peroxisomal Targeting Signal 2 Receptor -- deficiency
- Pregnancy
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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