Jurgen W. Spranger
Mainz, RP, Germany
Last Updated: 09/26/2026
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Found 23 publications
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Journal: American journal of medical genetics. Part A
Published: April 21, 2021
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
Journal: American journal of medical genetics. Part A
Published: December 09, 2018
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Journal: American journal of human genetics
Published: November 08, 2018
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Journal: JCI insight
Published: September 07, 2018
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
Journal: American journal of medical genetics. Part A
Published: August 15, 2018
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.
Journal: European journal of medical genetics
Published: July 21, 2018
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
Journal: Clinical case reports
Published: April 12, 2018
A common pathomechanism in GMAP-210- and LBR-related diseases.
Journal: JCI insight
Published: March 19, 2018
Guiding Registry for Skeletal Dysplasia. Rational Approach in Classification.
Journal: Pediatric endocrinology reviews : PER
Published: January 03, 2018
John M Opitz, Founder of AJMG, awarded the German Merit of Honor.
Journal: American journal of medical genetics. Part A
Published: January 30, 2017
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Journal: Orphanet journal of rare diseases
Published: June 14, 2016
Last Updated: 09/26/2026