Research map: Early-onset juvenile Paget disease associated with a homozygous intronic TNFRSF11B variant: a 2-year follow-up

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  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
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  17. Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels · Michael P. Whyte · 2007 · 43 citations · Cited by this paper
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  19. Familial idiopathic hyperphosphatasia (FIH): Response to long-term treatment with pamidronate (APD) · Hamilton Cassinelli · 1992 · 37 citations · Cited by this paper
  20. Ocular Manifestations of Juvenile Paget Disease · Nathan Mitchell Kerr · 2010 · 36 citations · Cited by this paper
  21. Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy · Cristina Tau · 2004 · 31 citations · Cited by this paper
  22. Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation · Forough Saki · 2013 · 29 citations · Cited by this paper
  23. Bilateral Cavernous Internal Carotid Aneurysms in a Child with Juvenile Paget Disease and Osteoprotegerin Deficiency · Charlotte A. Allen · 2007 · 22 citations · Cited by this paper
  24. Loss of Functional Osteoprotegerin: More Than a Skeletal Problem · Corinna Grasemann · 2016 · 17 citations · Cited by this paper
  25. Visual Impairment in a Case of Juvenile Paget's Disease With Pseudoxanthoma Elasticum: An Eleven Year Follow Up · Khaled W Sharif · 1989 · 15 citations · Cited by this paper
  26. Sporadic Hyperphosphatasia Syndrome Featuring Periostitis and Accelerated Skeletal Turnover without Receptor Activator of Nuclear Factor-κB, Osteoprotegerin, or Sequestosome-1 Gene Defects · Suat Şimşek · 2007 · 7 citations · Cited by this paper
  27. Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B gene · Jana Horackova · 2025 · 3 citations · Cited by this paper

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