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Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
Am J Med Genet A. 2021 Apr;185(4):1256-1260. doi: 10.1002/ajmg.a.62089. Epub 2021 Jan 25.
Am J Med Genet A. 2021.
PMID: 33491856
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton J, Huckstadt V, Moresco A, Gravina LP, Obregon MG.
Chinton J, et al.
Arch Argent Pediatr. 2019 Oct 1;117(5):330-337. doi: 10.5546/aap.2019.eng.330.
Arch Argent Pediatr. 2019.
PMID: 31560489
Free article.
English, Spanish.
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Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J, Huckstadt V, Mucciolo M, Lepri F, Novelli A, Gravina LP, Obregon MG.
Chinton J, et al.
Am J Med Genet A. 2020 Feb;182(2):409-414. doi: 10.1002/ajmg.a.61445. Epub 2019 Dec 11.
Am J Med Genet A. 2020.
PMID: 31825158
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Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan syndrome.
Chinton J, Huckstadt V, Foncuberta ME, Perez MM, Bonetto MC, Gravina LP, Obregon MG.
Chinton J, et al.
Am J Med Genet A. 2022 Aug;188(8):2505-2508. doi: 10.1002/ajmg.a.62862. Epub 2022 Jun 11.
Am J Med Genet A. 2022.
PMID: 35689529
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