| PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES |
2274 |
|
|
1-BP DEL |
|
|
|
|
|
|
14581620 |
"Roessler, E.; Du, Y.-Z.; Mullor, J. L.; Casas, E.; Allen, W. P.; Gillessen-Kaesbach, G.; Roeder, E. R.; Ming, J. E.; Ruiz i Altaba, A.; Muenke, M. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc. Nat. Acad. Sci. 100: 13424-13429, 2003." |
| PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES |
339 |
G A |
|
|
W > X |
113 |
N |
|
|
|
14581620 |
"Roessler, E.; Du, Y.-Z.; Mullor, J. L.; Casas, E.; Allen, W. P.; Gillessen-Kaesbach, G.; Roeder, E. R.; Ming, J. E.; Ruiz i Altaba, A.; Muenke, M. : |
