Familial cases of congenital hydrocephalus have often been reported and may result from distinct monogenic disorders or may be mul-tifactorially determined.1 The commonest cause is X linked hydrocephalus associated with stenosis of the aqueduct of Sylvius and, in most families, the genetic basis of this con-dition is known.2 By contrast, familial adult onset cases are unusual and the genetic basis is unknown.3 We report a family in which the presumed mode of inheritance is autosomal dominant with variable penetrance. The family pedigree is shown in figure 1. There was no consanguinity. Patient II-1 was a 76 year old man wh
Abstract Background: The pathophysiological basis of idiopathic normal pressure hydrocephalus (iNPH...
SUMMARY A family pedigree with a possible new genetic syndrome characterised by the presence of angi...
A genetic informed approach sheds new light on the biology of congenital hydrocephalus (CH), on whic...
Since the original description of a sex-linked mode of inheritance in congenital hydrocephalus (Bick...
Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneou...
Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneou...
pathological examinations on two cases of hydro-cephalus secondary to aqueductal stenosis in familie...
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is freque...
X-linked hydrocephalus: another two families with an Ll mutation: X-linked hydrocephalus is a variab...
X-linked hydrocephalus: another two families with an Ll mutation: X-linked hydrocephalus is a variab...
Background: Information regarding the occurrence of hydrocephalus (HC) in twins is important in est...
We report on a family in which a mother and her 3 daughters have delayed psychomotor development and...
The aim of this study was to characterize the possibility of genetic etiology in a group of individu...
Background: The pathophysiological basis of idiopathic normal pressure hydrocephalus (iNPH) is still...
Human congenital non-syndromic hydrocephalus is a vastly heterogeneous condition. A subgroup of case...
Abstract Background: The pathophysiological basis of idiopathic normal pressure hydrocephalus (iNPH...
SUMMARY A family pedigree with a possible new genetic syndrome characterised by the presence of angi...
A genetic informed approach sheds new light on the biology of congenital hydrocephalus (CH), on whic...
Since the original description of a sex-linked mode of inheritance in congenital hydrocephalus (Bick...
Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneou...
Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneou...
pathological examinations on two cases of hydro-cephalus secondary to aqueductal stenosis in familie...
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is freque...
X-linked hydrocephalus: another two families with an Ll mutation: X-linked hydrocephalus is a variab...
X-linked hydrocephalus: another two families with an Ll mutation: X-linked hydrocephalus is a variab...
Background: Information regarding the occurrence of hydrocephalus (HC) in twins is important in est...
We report on a family in which a mother and her 3 daughters have delayed psychomotor development and...
The aim of this study was to characterize the possibility of genetic etiology in a group of individu...
Background: The pathophysiological basis of idiopathic normal pressure hydrocephalus (iNPH) is still...
Human congenital non-syndromic hydrocephalus is a vastly heterogeneous condition. A subgroup of case...
Abstract Background: The pathophysiological basis of idiopathic normal pressure hydrocephalus (iNPH...
SUMMARY A family pedigree with a possible new genetic syndrome characterised by the presence of angi...
A genetic informed approach sheds new light on the biology of congenital hydrocephalus (CH), on whic...