A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.
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ABSTRACT:
SUBMITTER: Elward C
PROVIDER: S-EPMC7669391 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
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A case series of a mother and two daughters with a <i>GLI2</i> gene deletion demonstrating variable expressivity and incomplete penetrance.
Elward Cameron C Berg Janet J Oberlin John M JM Rohena Luis L
Clinical case reports 20200830 11
This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance. ...[more]
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