| Entry |
|
| Name |
Holoprosencephaly (HPE)
|
| Description |
Holoprosencephaly is characterized by incomplete separation of forebrain and facial components into left and right sides.
|
| Category |
Developmental disorder; Nervous system disease
 |
| Pathway |
| Hedgehog signaling pathway |
|
| Gene |
|
| Other DBs |
|
| Reference |
|
| Authors |
Lim AS, Lim TH, Kee SK, Chia P, Raman S, Eu EL, Lim JY, Tien SL |
| Title |
Holoprosencephaly: an antenatally-diagnosed case series and subject review. |
| Journal |
Ann Acad Med Singapore 37:594-7 (2008) |
| Reference |
|
| Authors |
Fernandes M, Hebert JM |
| Title |
The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces. |
| Journal |
Clin Genet 73:413-23 (2008) |
| Reference |
|
| Authors |
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V |
| Title |
Holoprosencephaly. |
| Journal |
Orphanet J Rare Dis 2:8 (2007) |
| Reference |
|
| Authors |
Cohen MM Jr |
| Title |
Holoprosencephaly: clinical, anatomic, and molecular dimensions. |
| Journal |
Birth Defects Res A Clin Mol Teratol 76:658-73 (2006) |
| Reference |
|
| Authors |
Wallis D, Muenke M |
| Title |
Mutations in holoprosencephaly. |
| Journal |
Hum Mutat 16:99-108 (2000) |