Literature DB >> 28544325

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.

Harald Gaspar1, Bernd Lutz2, Kerstin Reicherter3, Simon Lühl4, Rita Taurman2, Heinz Gabriel3, Rolf E Brenner5, Guntram Borck1.   

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Year:  2017        PMID： 28544325     DOI： 10.1002/ajmg.a.38286

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.

Authors:  Stefano Nistri; Rosina De Cario; Elena Sticchi; Gaia Spaziani; Matteo Della Monica; Sabrina Giglio; Silvia Favilli; Betti Giusti; Pierluigi Stefano; Guglielmina Pepe
Journal:  Genes (Basel)       Date:  2021-09-22       Impact factor: 4.096

2.  Whole Genome Sequencing Unravels New Genetic Determinants of Early-Onset Familial Osteoporosis and Low BMD in Malta.

Authors:  Chanelle Cilia; Donald Friggieri; Josanne Vassallo; Angela Xuereb-Anastasi; Melissa Marie Formosa
Journal:  Genes (Basel)       Date:  2022-01-23       Impact factor: 4.096
  2 in total

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