PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. [electronic resource]
Producer: 20180806Description: 84-91 p. digitalISSN:- 1399-0004
- Abnormalities, Multiple -- genetics
- Base Sequence
- Carboxylic Ester Hydrolases
- Consanguinity
- Egypt
- Family Health
- Female
- Founder Effect
- Genetic Predisposition to Disease -- genetics
- Homozygote
- Humans
- Intellectual Disability -- genetics
- Male
- Mutation
- Pedigree
- Phenotype
- Phosphorus Metabolism Disorders -- genetics
- Receptors, Cell Surface -- genetics
- Sequence Analysis, DNA -- methods
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Publication Type: Journal Article
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