OBJECTIVE Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside. METHODS Comparison of our three unusual 4p16.3 deletions with 13 literature reports. Array-comparative genomic hybridization (a-CGH). Real-time polymerase chain reaction ...
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene...
Within recent years, numerous individuals have been identified with terminal 4p microdeletions dista...
Wolf-Hirschhorn syndrome (WHS; OMIM 194190) is a complex variable malformation disorder characterize...
Item does not contain fulltextOBJECTIVE: Seizure disorder is one of the most relevant clinical manif...
In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its spe...
Wolf-Hirschhorn syndrome (WHS) represents an archetypical example of a contiguous gene deletion diso...
AbstractWolf-Hirschhorn syndrome (WHS) represents an archetypical example of a contiguous gene delet...
In this study, we present a 38-year-old woman with an interstitial deletion of 4p15.1-15.3, mild men...
Wolf-Hirschhorn syndrome (WHS) caused by 4p16.3 deletions comprises growth and mental retardation, d...
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene...
Background Wolf-Hirschhorn syndrome (WHS) results from the partial deletion of 4p. This study aimed ...
Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as w...
Recently the genotype/phenotype map of Wolf-Hirschhorn syndrome (WHS) has been refined, using small ...
The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental reta...
Human Wolf-Hirschhorn syndrome (WHS) is a multigenic disorder resulting from a hemizygous deletion o...
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene...
Within recent years, numerous individuals have been identified with terminal 4p microdeletions dista...
Wolf-Hirschhorn syndrome (WHS; OMIM 194190) is a complex variable malformation disorder characterize...
Item does not contain fulltextOBJECTIVE: Seizure disorder is one of the most relevant clinical manif...
In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its spe...
Wolf-Hirschhorn syndrome (WHS) represents an archetypical example of a contiguous gene deletion diso...
AbstractWolf-Hirschhorn syndrome (WHS) represents an archetypical example of a contiguous gene delet...
In this study, we present a 38-year-old woman with an interstitial deletion of 4p15.1-15.3, mild men...
Wolf-Hirschhorn syndrome (WHS) caused by 4p16.3 deletions comprises growth and mental retardation, d...
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene...
Background Wolf-Hirschhorn syndrome (WHS) results from the partial deletion of 4p. This study aimed ...
Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as w...
Recently the genotype/phenotype map of Wolf-Hirschhorn syndrome (WHS) has been refined, using small ...
The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental reta...
Human Wolf-Hirschhorn syndrome (WHS) is a multigenic disorder resulting from a hemizygous deletion o...
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene...
Within recent years, numerous individuals have been identified with terminal 4p microdeletions dista...
Wolf-Hirschhorn syndrome (WHS; OMIM 194190) is a complex variable malformation disorder characterize...