Spondylocarpotarsal Synostosis Syndrome Latest Advances

Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization.

Journal: Journal of biomolecular structure & dynamics

Published: October 14, 2025

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report.

Journal: Journal of Yeungnam medical science

Published: October 04, 2024

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

Journal: Australasian journal of ultrasound in medicine

Published: September 15, 2024

A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.

Journal: Journal of basic and clinical physiology and pharmacology

Published: March 02, 2024

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Journal: The Yale journal of biology and medicine

Published: October 02, 2023

Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.

Journal: EMBO molecular medicine

Published: November 16, 2022

Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome.

Journal: Journal of pediatric genetics

Published: May 20, 2022

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Journal: Neuromuscular disorders : NMD

Published: December 06, 2021

Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis.

Journal: Computational and mathematical methods in medicine

Published: November 17, 2021

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.

Journal: Genes

Published: March 10, 2021

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

Journal: BMC musculoskeletal disorders

Published: July 11, 2020

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

Journal: Molecular genetics & genomic medicine

Published: April 30, 2020

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Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization.

Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization.

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report.

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report.

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.

A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome.

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.

Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.

Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome.

Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis.

Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis.

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).