Marden-Walker Syndrome Latest Advances

A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report.

Journal: Neurology India

Published: August 28, 2023

Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.

Journal: Clinical dysmorphology

Published: March 08, 2022

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Journal: Molecular syndromology

Published: January 09, 2022

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Journal: American journal of medical genetics. Part A

Published: January 06, 2022

Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome.

Journal: American journal of medical genetics. Part A

Published: December 25, 2020

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Journal: American journal of medical genetics. Part A

Published: November 30, 2020

Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Journal: American journal of medical genetics. Part A

Published: July 02, 2020

First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease.

Journal: Herzschrittmachertherapie & Elektrophysiologie

Published: February 02, 2020

Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.

Journal: American journal of medical genetics. Part A

Published: December 05, 2018

Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms.

Journal: Experimental and therapeutic medicine

Published: January 05, 2018

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Journal: BMC medical genetics

Published: October 09, 2017

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.

Journal: Journal of human genetics

Published: August 12, 2016

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A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report.

A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report.

Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.

Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review.

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome.

Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome.

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease.

First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease.

Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.

Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.

Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms.

Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms.

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.