A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. [electronic resource]
Producer: 20180129Description: 2436-9 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- diagnostic imaging
- Child, Preschool
- Founder Effect
- Growth Disorders -- diagnostic imaging
- Hernia -- diagnostic imaging
- Homozygote
- Humans
- Infant
- Joint Instability -- diagnostic imaging
- Male
- Mitochondrial Precursor Protein Import Complex Proteins
- Mitochondrial Proteins -- genetics
- Mutation
- Phenotype
- Psychomotor Disorders -- diagnostic imaging
- Survival Analysis
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Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
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