Hydrocephalus Autosomal Recessive Latest Advances

Find the Latest Research About Hydrocephalus Autosomal Recessive

Last Updated: 02/24/2026

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Found 30 publications

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.

Journal: Heliyon
Published: March 21, 2024

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.

Journal: Human genetics
Published: October 13, 2018

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.

Journal: Clinical genetics
Published: December 20, 2016

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.

Journal: Journal of medical genetics
Published: October 09, 2012

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.

Journal: Molecular syndromology
Published: June 20, 2010

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.

Journal: Journal of neurosurgery. Pediatrics
Published: April 07, 2010

Autosomal recessive hydrocephalus due to third ventricle obstruction.

Autosomal recessive hydrocephalus due to third ventricle obstruction.

Journal: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
Published: June 04, 2005

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.

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.

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?

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.

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.

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

Journal: Saudi medical journal
Published: September 01, 1999
Showing 1-12 of 30

Last Updated: 02/24/2026