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Page 1
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Lissewski C, Chune V, Pantaleoni F, De Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio FC, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio MC, Cave H, Tartaglia M, Zenker M. Lissewski C, et al. Among authors: scarano e. Eur J Hum Genet. 2021 Jan;29(1):51-60. doi: 10.1038/s41431-020-00708-6. Epub 2020 Aug 12. Eur J Hum Genet. 2021. PMID: 32788663 Free PMC article.
Noonan-like syndrome with loose anagen hair: a new syndrome?
Mazzanti L, Cacciari E, Cicognani A, Bergamaschi R, Scarano E, Forabosco A. Mazzanti L, et al. Among authors: scarano e. Am J Med Genet A. 2003 Apr 30;118A(3):279-86. doi: 10.1002/ajmg.a.10923. Am J Med Genet A. 2003. PMID: 12673660
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.
Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A, Cacciari E. Mazzanti L, et al. Among authors: scarano e. Am J Med Genet A. 2005 Jun 1;135(2):150-4. doi: 10.1002/ajmg.a.30569. Am J Med Genet A. 2005. PMID: 15880570
Developmental syndromes: growth hormone deficiency and treatment.
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A. Mazzanti L, et al. Among authors: scarano e. Endocr Dev. 2009;14:114-34. doi: 10.1159/000207481. Epub 2009 Feb 27. Endocr Dev. 2009. PMID: 19293579 Review.
328 results