Hydrocephalus Autosomal Recessive Latest Advances

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: November 09, 2002

Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum.

Journal: Acta orthopaedica Belgica

Published: February 02, 2002

Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?

Journal: Clinical dysmorphology

Published: January 11, 2001

Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.

Journal: Prenatal diagnosis

Published: December 11, 1999

Congenital hydrocephalus due to aqueductal stenosis of probable autosomal recessive inheritance.

Journal: Saudi medical journal

Published: September 01, 1999

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Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.

A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis.

Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis.

Autosomal recessive hydrocephalus due to third ventricle obstruction.

Autosomal recessive hydrocephalus due to third ventricle obstruction.

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.

Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum.

Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum.

Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?

Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?

Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.

Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.

Congenital hydrocephalus due to aqueductal stenosis of probable autosomal recessive inheritance.

Congenital hydrocephalus due to aqueductal stenosis of probable autosomal recessive inheritance.