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Bone dysplasias in 1.6 million births in Argentina.
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Clinical epidemiology of skeletal dysplasias in South America.
Am J Med Genet A. 2012 May;158A(5):1038-45. doi: 10.1002/ajmg.a.35246. Epub 2012 Mar 9.
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The birth prevalence rates for the skeletal dysplasias.
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ECLAMC: the Latin-American collaborative study of congenital malformations.
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The burden of skeletal-related events in four Latin American countries: Argentina, Brazil, Colombia, and Mexico.
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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Am J Med Genet A. 2020 Sep;182(9):2068-2076. doi: 10.1002/ajmg.a.61735. Epub 2020 Jun 27.
2
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
Am J Med Genet A. 2020 Apr;182(4):681-688. doi: 10.1002/ajmg.a.61460. Epub 2020 Jan 5.
3
SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.
J Pediatr Genet. 2019 Sep;8(3):123-132. doi: 10.1055/s-0039-1691788. Epub 2019 May 28.
4
Height growth velocity during infancy and childhood in achondroplasia.
Am J Med Genet A. 2019 Jun;179(6):1001-1009. doi: 10.1002/ajmg.a.61120. Epub 2019 Mar 19.
5
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14.
6
Bone dysplasias in 1.6 million births in Argentina.
Eur J Med Genet. 2019 Dec;62(12):103603. doi: 10.1016/j.ejmg.2018.12.008. Epub 2018 Dec 17.
7
FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation.
J Pediatr Endocrinol Metab. 2018 Nov 27;31(11):1279-1284. doi: 10.1515/jpem-2018-0046.
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Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.
Am J Med Genet A. 2018 Sep;176(9):1917-1928. doi: 10.1002/ajmg.a.40425. Epub 2018 Aug 2.
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Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta.
Ann Hum Genet. 2018 Nov;82(6):477-481. doi: 10.1111/ahg.12275. Epub 2018 Jul 24.

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