Gary S Gottesman

Profile picture
Professor of Pediatrics, Endocrinology and Diabetes
Professor of Pediatrics, Genetics and Genomic Medicine
Genetics and Genomic MedicineEndocrinology and DiabetesDepartment of Medicine

phone: (314) 454-6051


  • BA, Cum Laude in General Studies, Harvard College1982
  • MD, Cum laude eruditionis causa, University of Michigan Medical School1988


  • Pediatric Residency, Saint Louis Children's Hospital/Washington University School of Medicine1988 - 1991
  • Medical Genetics Clinical/Research Fellowship, Washington University School of Medicine1991 - 1995

Licensure and Board Certification

  • 1991 - PresMO, Missouri Board of Registration for the Healing Arts/Licensing Body/Medical Physician & Surgeon
  • 1991 - PresAmerican Board of Pediatrics
  • 1996 - PresAmerican Board of Medical Genetics and Genomics

Honors and Awards

  • Harvard Scholarship1981 - 1982
  • University of Michigan Medical Student Research Fellowship1984 - 1984
  • Howard Hughes Medical Institute-National Institutes of Health Research Scholar1985 - 1986
  • Research Award, Osteogenesis Imperfecta Foundation, National Capital Area1988 - 1988
  • Post-graduate Research Fellowship1988 - 1988
  • Pediatric Scientist Development Program Fellowship1991 - 1994
  • Achievement of Excellence in Patient Care Award-Cardinal Glennon Children's Medical Center2006

Recent Publications view all (48)

Publication Co-Authors

  1. Diagnosing X-Linked Hypophosphatemia in Children: The Missing Element. Clin Pediatr (Phila). 2022;99228221111235. PMID:35978478 
  2. Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia. J Clin Endocrinol Metab. 2022;107(8):e3241-e3253. PMCID:PMC9282253  PMID:35533340 
  3. Healthcare Transition from Pediatric- to Adult-Focused Care in X-Linked Hypophosphatemia: Review and Expert Consensus. J Clin Endocrinol Metab. 2021. PMID:34741521 
  4. Sustained efficacy and safety of burosumab, a monoclonal antibody to FGF23, in children with X-linked hypophosphatemia. J Clin Endocrinol Metab. 2021. PMID:34636899 
  5. Vitamin B6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia. Bone. 2021;150:116007. PMID:34000433 
  6. Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia. Calcif Tissue Int. 2021;108(5):622-633. PMCID:PMC8064984  PMID:33484279 
  7. Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V. Bone. 2021;145:115835. PMID:33360005 
  8. Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy. Bone. 2020;138:115459. PMID:32474245 
  9. Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7). Bone. 2020;137:115364. PMCID:PMC8054448  PMID:32298837 
  10. Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health. Bone. 2020;136:115322. PMID:32200022 
  11. X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study). J Bone Miner Res. 2020;35(5):920-931. PMID:31910300 
  12. Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. Bone. 2020;130:115047. PMCID:PMC6945817  PMID:31472299 
  13. New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6. Bone. 2019;127:228-243. PMID:31085352 
  14. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet. 2019;393(10189):2416-2427. PMCID:PMC7179969  PMID:31104833 
  15. Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. Lancet Diabetes Endocrinol. 2019;7(3):189-199. PMID:30638856 
  16. Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis. J Bone Miner Res. 2018;33(11):2071-2080. PMCID:PMC6636828  PMID:29933504 
  17. Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018;107:161-171. PMCID:PMC5987759  PMID:29175271 
  18. Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS. Bone. 2017;101:145-155. PMCID:PMC5518630  PMID:28434888 
  19. Acromelia-oligodontia syndrome. Clin Case Rep. 2017;5(6):968-974. PMCID:PMC5458011  PMID:28588849 
  20. Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease. Am J Med Genet A. 2016;170A(4):978-85. PMCID:PMC5111855  PMID:26762549 
  21. PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets. J Bone Miner Res. 2015;30(1):137-43. PMID:25042154 
  22. Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. Am J Med Genet A. 2014;164A(9):2287-93. PMCID:PMC4505615  PMID:24989131 
  23. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab. 2013;110(1-2):129-38. PMCID:PMC3779837  PMID:23876334 
  24. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013;15(3):234-45. PMID:23429433 
  25. Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. J Bone Miner Res. 2013;28(2):419-30. PMID:22972716 
  26. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. Am J Med Genet A. 2011;155A(12):3002-6. PMCID:PMC4679285  PMID:22065502 
  27. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011;155A(9):2091-7. PMID:21834049 
  28. Mystery solved: The evolution of diagnostic abilities in genetic testing. JAAPA. 2011;24(1):57-8. PMID:21261153 
  29. Newborn screening tests in the 21st century: what PAs need to know. JAAPA. 2010;23(4):30-5. PMID:20411636 
  30. The genetics encounter: different from the typical clinic visit. JAAPA. 2010;23(3):70. PMID:20232731 
  31. Newborn metabolic screening and related pitfalls. Mo Med. 2009;106(3):234-40. PMID:22641920 
  32. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30(2):165-74. PMID:17347914 
  33. Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide. Mol Genet Metab. 2006;88(3):244-55. PMCID:PMC2587042  PMID:16616566 
  34. Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet. 2006;78(1):89-102. PMCID:PMC1380226  PMID:16385452 
  35. The challenges of medical genetics and the primary care practitioner. Mo Med. 2004;101(2):85-6. PMID:15119103 
  36. Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 2003;18(4):624-36. PMID:12674323 
  37. Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin. J Bone Miner Res. 2001;16(12):2245-50. PMID:11760838 
  38. A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred. J Clin Endocrinol Metab. 2000;85(9):3343-7. PMID:10999831 
  39. Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet. 2000;92(2):132-5. PMID:10797438 
  40. Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting. Am J Med Genet. 2000;90(4):276-82. PMID:10710223 
  41. Hypertrophic cardiomyopathy in a newborn infant. J Pediatr. 1999;134(1):114-8. PMID:9880462 
  42. X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore). 1999;78(1):9-25. PMID:9990351 
  43. Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441) Pediatr Radiol. 1997;27(11):864. PMID:9361046 
  44. Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864. Pediatr Radiol. 1997;27(5):436-41. PMID:9133359 
  45. Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids. Nucleic Acids Res. 1990;18(14):4227-36. PMCID:PMC331183  PMID:1696002 
  46. Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. J Biol Chem. 1989;264(20):11893-900. PMID:2745420 
  47. Human and chick alpha 2(I) collagen mRNA: comparison of the 5' end in osteoblasts and fibroblasts. Biochemistry. 1988;27(9):3351-6. PMID:3390435 
  48. Crosslinking of proteins in acetylcholine receptor-rich membranes: association between the beta-subunit and the 43 kd subsynaptic protein. Cell. 1983;35(3 Pt 2):687-92. PMID:6652683 
Last updated: 10/17/2022
© 2022 by Washington University in St. Louis
One Brookings Drive, St. Louis, MO 63130