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

14 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

@article{f7499b4e23784fdbb66b4dc4466b7ad4,

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",

note = "Publisher Copyright: {\textcopyright} 2020 The Authors. Clinical Case Reports published by John Wiley \& Sons Ltd.",

year = "2020",

month = nov,

doi = "10.1002/ccr3.3085",

language = "English",

volume = "8",

pages = "2138--2144",

journal = "Clinical Case Reports",

issn = "2050-0904",

number = "11",

}

TY - JOUR

T1 - A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance

AU - Elward, Cameron

AU - Berg, Janet

AU - Oberlin, John M.

AU - Rohena, Luis

PY - 2020/11

Y1 - 2020/11

N2 - 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.

AB - 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.

KW - Culler Jones syndrome

KW - GLI2

KW - holoprosencephaly

KW - hypopituitarism

UR - http://www.scopus.com/inward/record.url?scp=85089962304&partnerID=8YFLogxK

U2 - 10.1002/ccr3.3085

DO - 10.1002/ccr3.3085

M3 - Article

AN - SCOPUS:85089962304

SN - 2050-0904

VL - 8

SP - 2138

EP - 2144

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 11

ER -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this