Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean. [electronic resource]
- Prenatal diagnosis 01 2018
- 67-74 p. digital
Publication Type: Journal Article
1097-0223
10.1002/pd.5055 doi
Adult Agenesis of Corpus Callosum--diagnosis Cytochrome-c Oxidase Deficiency--diagnosis Female Founder Effect Genetic Carrier Screening Heterozygote Humans Leigh Disease--diagnosis Male Muscle Spasticity--diagnosis Peripheral Nervous System Diseases--diagnosis Pilot Projects Spinocerebellar Ataxias--congenital Tyrosinemias--diagnosis Young Adult