Last Updated: 09/26/2026
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Found 20 publications
Mortality in pediatric hydrocephalus.
Journal: Developmental medicine and child neurology
Published: May 27, 2021
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
Journal: American journal of medical genetics. Part A
Published: December 03, 2018
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: September 09, 2018
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 12, 2017
Abstracts from Hydrocephalus 2016.
Journal: Fluids and barriers of the CNS
Published: September 21, 2017
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
Journal: American journal of medical genetics. Part A
Published: September 13, 2017
Epileptic spasms as the presenting seizure type in a patient with a new "O" of TORCH, congenital Zika virus infection.
Journal: Epilepsy & behavior case reports
Published: August 18, 2017
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 18, 2017
Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
Journal: Neurosurgical focus
Published: November 02, 2016
Mortality in Joubert syndrome.
Journal: American journal of medical genetics. Part A
Published: August 04, 2016
Clinical and Surgical Factors Associated With Increased Epilepsy Risk in Children With Hydrocephalus.
Journal: Pediatric neurology
Published: January 08, 2016
Prenatal presentation of pyruvate dehydrogenase complex deficiency.
Journal: Pediatric radiology
Published: October 30, 2015
Last Updated: 09/26/2026