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Last Updated: 10/31/2025
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Found 67 publications
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
Dental characteristics of patients with four different types of skeletal dysplasias.
Journal: Clinical oral investigations
Published: May 04, 2022
Last Updated: 10/31/2025