Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0671-0.pdf
Reference28 articles.
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2. Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007;44(2):89–98.
3. Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, et al. International nosology of heritable disorders of connective tissue, berlin, 1986. Am J Med Genet. 1988;29(3):581–94.
4. Murphy-Ryan M, Psychogios A, Lindor NM. Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis. Genet Med. 2010;12(6):344–54.
5. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37(3):275–81.
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