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Last Updated: 10/31/2025
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Found 51 publications
Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.
Journal: Clinical dysmorphology
Published: January 14, 2025
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: September 15, 2023
KIF22 regulates mitosis and proliferation of chondrocyte cells.
Journal: iScience
Published: September 04, 2023
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.
Journal: European journal of medical genetics
Published: July 04, 2023
Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro.
Journal: Molecular biology reports
Published: May 15, 2023
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: May 10, 2023
New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report.
Journal: Frontiers in pediatrics
Published: October 18, 2022
Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.
Journal: Pediatric radiology
Published: June 14, 2022
B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
Journal: European journal of medical genetics
Published: June 09, 2022
A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
Journal: American journal of medical genetics. Part A
Published: March 04, 2022
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Journal: American journal of medical genetics. Part A
Published: February 11, 2021
Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome.
Journal: Turkish neurosurgery
Published: November 20, 2020
Last Updated: 10/31/2025