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Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med 364: 22182226. Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, et al. Exome sequencing identifies PDE4D mutations as a further cause of acrodysostosis. Am J Hum Genet 90: 740745. 1313429 et al. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet 90: 746751. Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, et al. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 32: 557563. Ishikawa Y, Tajima T, Nakae J, Nagashima T, Satoh K, et al. Two mutations with the Gsalpha gene in two Japanese sufferers with sporadic pseudohypoparathyroidism variety Ia. J Hum Genet 46: 426430. Lim SH, Poh LK, Cowell CT, Tey BH, Loke KY Mutational evaluation with the GNAS1 exons encoding the stimulatory G protein in five individuals with pseudohypoparathyroidism sort 1a. J Pediatr Endocrinol Metab 15: 259268. Lam ACF, Chan DHC, Lai KKS, Tong TMF, Lo IFM, et al. Phenotypic Spectrum of 3 Pseudohypoparathyroidism sort 1a, and 2 Pseudopseudohypoparathyroidism Chinese Individuals with Novel GNAS Mutations. HK J Paediatr 11: 284289. Chen W, Chang MH New development charts for Taiwanese youngsters and adolescents primarily based on World Wellness Organization standards and health-related physical fitness. Pediatr Neonatol 51: 6979. Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, et al. Mutational evaluation of GNAS1 in sufferers with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 85: 42434248. Nakamura Y, Matsumoto T, Tamakoshi A, Kawamura T, Seino Y, et al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol ten: 2933. Sun LH, Cui B, Zhao HY, Tao B, Wang WQ, et al. Identification of a novel GNAS mutation for pseudohypoparathyroidism within a Chinese household. Endocrine 36: 2529. Park CH, Park HD, Lee SY, Kim JW, Sohn YB, et al. Clinical, biochemical, and genetic evaluation of korean sufferers with pseudohypoparathyroidism type Ia. Ann Clin Lab Sci 40: 261266. 31. Jin HY, Lee BH, Choi JH, Kim GH, Kim JK, et al. Clinical characterization and identification of two novel mutations with the GNAS gene in sufferers with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Clin Endocrinol 75: 207213. 32. Miao ZM, Wang C, Wang BB, Meng DM, Su DM, et al. Identification of a novel mutation inside a pseudohypoparathyroidism family members. Int J Endocrinol 2011: 509549. 33. Elli FM, deSanct.2527. Chillambhi S, Turan S, Hwang DY, Chen HC, Juppner H, et al. Deletion with the noncoding GNAS antisense transcript causes pseudohypoparathyroidism variety Ib and biparental defects of GNAS methylation in cis. J Clin Endocrinol Metab 95: 39934002. Richard N, Abeguile G, Coudray N, Mittre H, Gruchy N, et al. A brand new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism form Ib. J Clin Endocrinol Metab 97: E863867. Bastepe M, Lane AH, Juppner H Paternal uniparental isodisomy of chromosome 20qand the resulting alterations in GNAS1 methylationas a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 68: 12831289. Fernandez-Rebollo E, Perez de Nanclares G, Lecumberri B, Turan S, Anda E, et al. Exclusion with the GNAS locus in PHP-Ib patients with broad GNAS methylation modifications: evidence for an autosomal recessive type of PHP-Ib J Bone Miner Res 26: 18541863. Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med 364: 22182226. Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, et al. Exome sequencing identifies PDE4D mutations as one more reason for acrodysostosis. Am J Hum Genet 90: 740745. 1655472 Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, 1313429 et al. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet 90: 746751. Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, et al. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 32: 557563. Ishikawa Y, Tajima T, Nakae J, Nagashima T, Satoh K, et al. Two mutations in the Gsalpha gene in two Japanese individuals with sporadic pseudohypoparathyroidism sort Ia. J Hum Genet 46: 426430. Lim SH, Poh LK, Cowell CT, Tey BH, Loke KY Mutational analysis in the GNAS1 exons encoding the stimulatory G protein in 5 patients with pseudohypoparathyroidism sort 1a. J Pediatr Endocrinol Metab 15: 259268. Lam ACF, Chan DHC, Lai KKS, Tong TMF, Lo IFM, et al. Phenotypic Spectrum of 3 Pseudohypoparathyroidism kind 1a, and two Pseudopseudohypoparathyroidism Chinese Patients with Novel GNAS Mutations. HK J Paediatr 11: 284289. Chen W, Chang MH New growth charts for Taiwanese young children and adolescents based on Planet Wellness Organization requirements and health-related physical fitness. Pediatr Neonatol 51: 6979. Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, et al. Mutational analysis of GNAS1 in individuals with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 85: 42434248. Nakamura Y, Matsumoto T, Tamakoshi A, Kawamura T, Seino Y, et al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol ten: 2933. Sun LH, Cui B, Zhao HY, Tao B, Wang WQ, et al. Identification of a novel GNAS mutation for pseudohypoparathyroidism within a Chinese family. Endocrine 36: 2529. Park CH, Park HD, Lee SY, Kim JW, Sohn YB, et al. Clinical, biochemical, and genetic analysis of korean sufferers with pseudohypoparathyroidism kind Ia. Ann Clin Lab Sci 40: 261266. 31. Jin HY, Lee BH, Choi JH, Kim GH, Kim JK, et al. Clinical characterization and identification of two novel mutations with the GNAS gene in individuals with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Clin Endocrinol 75: 207213. 32. Miao ZM, Wang C, Wang BB, Meng DM, Su DM, et al. Identification of a novel mutation in a pseudohypoparathyroidism household. Int J Endocrinol 2011: 509549. 33. Elli FM, deSanct.
