Walker-Warburg Syndrome Latest Advances

Find the Latest Research About Walker-Warburg Syndrome

Last Updated: 06/30/2026

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Found 339 publications

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Journal: Ophthalmic genetics
Published: March 08, 2026

Oncogenic PIK3CA mutations shape an immunoregulatory microenvironment in mosaic overgrowth disorders.

Oncogenic PIK3CA mutations shape an immunoregulatory microenvironment in mosaic overgrowth disorders.

Journal: PNAS nexus
Published: January 23, 2026

Fetal Presentation of Walker-Warburg Syndrome With a Novel POMT1 Splice-Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation.

Fetal Presentation of Walker-Warburg Syndrome With a Novel POMT1 Splice-Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation.

Journal: Clinical case reports
Published: January 22, 2026

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published: November 21, 2025

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.

Journal: Veterinary pathology
Published: October 09, 2025

Response to response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Response to response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Journal: Brain & development
Published: October 05, 2025

Corrigendum to "Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances" [Brain Dev. 47(5) (2025) 104437].

Corrigendum to "Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances" [Brain Dev. 47(5) (2025) 104437].

Journal: Brain & development
Published: September 27, 2025

Response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Response to the letter to the editor "Decoding the pathophysiological role of Fukutin in Fukuyama congenital muscular dystrophy".

Journal: Brain & development
Published: September 16, 2025

Decoding the pathophysiological role of fukutin in Fukuyama congenital muscular dystrophy.

Decoding the pathophysiological role of fukutin in Fukuyama congenital muscular dystrophy.

Journal: Brain & development
Published: September 11, 2025

CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.

CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.

Journal: Pediatric investigation
Published: August 22, 2025

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.

Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.

Journal: BMC ophthalmology
Published: July 14, 2025

Identification and Prenatal Evaluation of Suspected Congenital Cataracts: Three Very Different Cases.

Identification and Prenatal Evaluation of Suspected Congenital Cataracts: Three Very Different Cases.

Journal: Journal of clinical ultrasound : JCU
Published: June 27, 2025
Showing 1-12 of 339

Last Updated: 06/30/2026