Genomes and Genes
Affiliation: University Hospital
- 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patientCristina Meazza
Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale C, Golgi 2, Pavia 27100, Italy
Ital J Pediatr 39:21. 2013..Notwithstanding the early start of therapy and good compliance, his growth rate was always very low, except for the first two years of treatment and he achieved a final height of 132 cm (-6.42 SDS)...
- Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasiaEkkehart Lausch
Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg, Germany
Am J Hum Genet 85:168-78. 2009....
- Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch
Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany
Nat Genet 43:132-7. 2011..These findings shed new light on the role of osteopontin and its regulation by TRAP in the pathogenesis of common autoimmune disorders...
- TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndromeEkkehart Lausch
Centre for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg, 79106 Freiburg, Germany
Am J Hum Genet 83:649-55. 2008..We conclude that Cousin syndrome is caused by TBX15 insufficiency and is thus the human counterpart of the droopy ear mouse...
- Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger
Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
Am J Med Genet A 152:2543-9. 2010....