Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. [electronic resource]
Producer: 20180601Description: 251-253 p. digitalISSN:- 2472-1727
- Abnormalities, Multiple -- diagnosis
- Anophthalmos -- diagnosis
- Fatal Outcome
- Female
- Frameshift Mutation
- Gene Expression
- Humans
- Infant
- Inheritance Patterns
- Lung -- abnormalities
- Lung Diseases -- diagnosis
- Male
- Membrane Proteins -- genetics
- Microphthalmos -- diagnosis
- Mutation, Missense
- Pregnancy
- Respiratory Insufficiency -- diagnosis
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Publication Type: Case Reports; Journal Article
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