Phenotypic spectrum associated with CASK loss-of-function mutations.
Beteiligte Einrichtungen
Abstract
Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia.
Bibliografische Daten
| Originalsprache | Englisch |
|---|---|
| Aufsatznummer | 11 |
| ISSN | 0022-2593 |
| Status | Veröffentlicht - 2011 |
| pubmed | 21954287 |
|---|
