Pathogenesis of holoprosencephaly

Xin Geng; Guillermo Oliver

doi:10.1172/JCI38937

Pathogenesis of holoprosencephaly

Xin Geng, Guillermo Oliver^*

^*Corresponding author for this work

Medicine, Nephrology Division

Research output: Contribution to journal › Review article › peer-review

77 Scopus citations

Abstract

Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology have been revealed by these models. Herein, we summarize the current knowledge on the genetic alterations that cause HPE and discuss some important questions about this disease that remain to be answered.

Original language	English (US)
Pages (from-to)	1403-1413
Number of pages	11
Journal	Journal of Clinical Investigation
Volume	119
Issue number	6
DOIs	https://doi.org/10.1172/JCI38937
State	Published - Jun 1 2009

ASJC Scopus subject areas

General Medicine

UN SDGs

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

Access to Document

10.1172/JCI38937

Cite this

@article{aa508857b5954a71ac46c5a16bbbb996,

title = "Pathogenesis of holoprosencephaly",

abstract = "Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology have been revealed by these models. Herein, we summarize the current knowledge on the genetic alterations that cause HPE and discuss some important questions about this disease that remain to be answered.",

author = "Xin Geng and Guillermo Oliver",

year = "2009",

month = jun,

day = "1",

doi = "10.1172/JCI38937",

language = "English (US)",

volume = "119",

pages = "1403--1413",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "American Society for Clinical Investigation",

number = "6",

}

TY - JOUR

T1 - Pathogenesis of holoprosencephaly

AU - Geng, Xin

AU - Oliver, Guillermo

PY - 2009/6/1

Y1 - 2009/6/1

N2 - Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology have been revealed by these models. Herein, we summarize the current knowledge on the genetic alterations that cause HPE and discuss some important questions about this disease that remain to be answered.

AB - Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology have been revealed by these models. Herein, we summarize the current knowledge on the genetic alterations that cause HPE and discuss some important questions about this disease that remain to be answered.

UR - http://www.scopus.com/inward/record.url?scp=67650996756&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=67650996756&partnerID=8YFLogxK

U2 - 10.1172/JCI38937

DO - 10.1172/JCI38937

M3 - Review article

C2 - 19487816

AN - SCOPUS:67650996756

SN - 0021-9738

VL - 119

SP - 1403

EP - 1413

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

IS - 6

ER -

Pathogenesis of holoprosencephaly

Abstract

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this