GLI2 mutations as a cause of hypopituitarism

Laurie E. Cohen

GLI2 mutations as a cause of hypopituitarism

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

Abstract

The sonic hedgehog (Shh) signaling pathway is important in pituitary and craniofacial development. Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features. Polydactyly is a common associated finding.

Original language	English (US)
Pages (from-to)	706-709
Number of pages	4
Journal	Pediatric Endocrinology Reviews
Volume	9
Issue number	4
State	Published - Aug 2012
Externally published	Yes

Keywords

GLI2
Holoprosencephaly
Hypopituitarism
Sonic hedgehog

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Cite this

@article{dfd9ed0455474d2cb9742a29a30e0669,

title = "GLI2 mutations as a cause of hypopituitarism",

abstract = "The sonic hedgehog (Shh) signaling pathway is important in pituitary and craniofacial development. Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features. Polydactyly is a common associated finding.",

keywords = "GLI2, Holoprosencephaly, Hypopituitarism, Sonic hedgehog",

author = "Cohen, {Laurie E.}",

year = "2012",

month = aug,

language = "English (US)",

volume = "9",

pages = "706--709",

journal = "Pediatric Endocrinology Reviews",

issn = "1565-4753",

publisher = "YS Medical Media Ltd.",

number = "4",

}

TY - JOUR

T1 - GLI2 mutations as a cause of hypopituitarism

AU - Cohen, Laurie E.

PY - 2012/8

Y1 - 2012/8

N2 - The sonic hedgehog (Shh) signaling pathway is important in pituitary and craniofacial development. Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features. Polydactyly is a common associated finding.

AB - The sonic hedgehog (Shh) signaling pathway is important in pituitary and craniofacial development. Gli2 is a transcription factor that mediates Shh signaling. Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features. Polydactyly is a common associated finding.

KW - GLI2

KW - Holoprosencephaly

KW - Hypopituitarism

KW - Sonic hedgehog

UR - http://www.scopus.com/inward/record.url?scp=84872564445&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84872564445&partnerID=8YFLogxK

M3 - Article

C2 - 23304807

AN - SCOPUS:84872564445

SN - 1565-4753

VL - 9

SP - 706

EP - 709

JO - Pediatric Endocrinology Reviews

JF - Pediatric Endocrinology Reviews

IS - 4

ER -

GLI2 mutations as a cause of hypopituitarism

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

Other files and links

Fingerprint

Cite this