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Last Updated: 01/07/2026
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Found 34 publications
Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review.
Journal: Case reports in genetics
Published: June 29, 2024
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.
Journal: Nature communications
Published: April 16, 2018
Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.
Journal: Ultrastructural pathology
Published: February 10, 2018
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica.
Journal: European journal of medical genetics
Published: May 15, 2017
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.
Journal: PLoS genetics
Published: March 08, 2017
Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging.
Journal: Journal of biomechanics
Published: March 08, 2017
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Journal: Journal of inherited metabolic disease
Published: January 10, 2017
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Journal: International journal of molecular sciences
Published: December 09, 2016
The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity.
Journal: Indian journal of dermatology
Published: November 06, 2015
Last Updated: 01/07/2026