Geleophysic Dysplasia Latest Advances

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Journal: European journal of pediatrics

Published: March 27, 2026

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia.

Journal: Scientific reports

Published: January 16, 2025

Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.

Journal: Taiwanese journal of obstetrics & gynecology

Published: October 23, 2024

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Journal: Ophthalmic genetics

Published: July 24, 2024

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review.

Journal: Frontiers in pediatrics

Published: May 06, 2024

Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 06, 2024

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Journal: Journal of medical genetics

Published: September 18, 2023

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.

Journal: JCI insight

Published: August 01, 2023

Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: June 27, 2023

Geleophysic dysplasia, unilateral choroidal folds and myelinated nerve fiber layer: A case report.

Journal: Journal francais d'ophtalmologie

Published: May 09, 2023

Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.

Journal: World journal of clinical cases

Published: November 29, 2022

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 03, 2022

Geleophysic Dysplasia Latest Advances

Find the Latest Research About Geleophysic Dysplasia

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia.

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia.

Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.

Prenatal diagnosis of geleophysic dysplasia with ADAMTSL2 mutations.

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review.

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review.

Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene

Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.

Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene

Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene

Geleophysic dysplasia, unilateral choroidal folds and myelinated nerve fiber layer: A case report.

Geleophysic dysplasia, unilateral choroidal folds and myelinated nerve fiber layer: A case report.

Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.

Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.