Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.

Sadowski, Samantha

Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. [electronic resource] - Birth defects research Mar 2017 - 251-253 p. digital

Publication Type: Case Reports; Journal Article

2472-1727

10.1002/bdra.23465 doi


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