Geleophysic Dysplasia Latest Advances

Find the Latest Research About Geleophysic Dysplasia

Last Updated: 09/19/2026

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Found 72 publications

FBN1 TB5 domain variants in acromelic dysplasia: multisystem manifestations, genotype-phenotype correlations, and partial responses to growth hormone therapy.

FBN1 TB5 domain variants in acromelic dysplasia: multisystem manifestations, genotype-phenotype correlations, and partial responses to growth hormone therapy.

Journal: Frontiers in endocrinology

Published: May 17, 2026

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.

Journal: European journal of pediatrics

Published: March 27, 2026

Blended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case Report.

Blended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case Report.

Journal: Annals of African medicine

Published: March 19, 2026

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

Journal: Congenital anomalies

Published: January 20, 2026

The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.

The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.

Journal: The American journal of pathology

Published: September 15, 2025

Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia.

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.

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.

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.

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

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.

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.

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.

Journal: JCI insight

Published: August 01, 2023

Showing 1-12 of 72

Last Updated: 09/19/2026