X-Linked Retinal Dysplasia Latest Advances

Journal: Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia

Published: August 26, 2024

Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.

Journal: Scientific reports

Published: August 22, 2024

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

Journal: Genes

Published: July 12, 2024

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.

Journal: BMC ophthalmology

Published: June 19, 2024

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Journal: Human molecular genetics

Published: May 02, 2024

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.

Journal: Molecular syndromology

Published: April 25, 2024

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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.

Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve head.

Investigating motile ciliopathies in a pediatric case of an abnormal optic nerve head.

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.

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.

Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.

Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back.

Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back.

Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.

Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.