A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

Cameron Elward; Janet Berg; John M. Oberlin; Luis Rohena

doi:10.1002/ccr3.3085

A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

Cameron Elward^*, Janet Berg, John M. Oberlin, Luis Rohena

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	2138-2144
Number of pages	7
Journal	Clinical Case Reports
Volume	8
Issue number	11
DOIs	https://doi.org/10.1002/ccr3.3085
State	Published - Nov 2020

Keywords

Culler Jones syndrome
GLI2
holoprosencephaly
hypopituitarism

Access to Document

10.1002/ccr3.3085

Cite this

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title = "A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance",

abstract = "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.",

keywords = "Culler Jones syndrome, GLI2, holoprosencephaly, hypopituitarism",

author = "Cameron Elward and Janet Berg and Oberlin, {John M.} and Luis Rohena",

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AU - Berg, Janet

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KW - Culler Jones syndrome

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KW - hypopituitarism

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