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

Am J Med Genet A. 2017 Aug;173(8):2289-2292. doi: 10.1002/ajmg.a.38286. Epub 2017 May 25.

Authors

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

Affiliations

¹ Institute of Human Genetics, University of Ulm, Ulm, Germany.
² Department of Orthopedics, University of Ulm, Ulm, Germany.
³ Center for Genomics and Transcriptomics and Praxis fuer Humangenetik Tuebingen, Tuebingen, Germany.
⁴ Division of Pediatric Neurology, Children's Hospital, University of Ulm, Ulm, Germany.
⁵ Division for Biochemistry of Joint and Connective Tissue Diseases, Department of Orthopedics, University of Ulm, Ulm, Germany.

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

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Child
Female
Humans
Loeys-Dietz Syndrome / complications
Loeys-Dietz Syndrome / diagnosis
Loeys-Dietz Syndrome / genetics*
Male
Osteoporosis / complications
Osteoporosis / diagnosis
Osteoporosis / genetics*
Pedigree
Prognosis
Sequence Deletion*
Transforming Growth Factor beta2 / genetics*

Substances

TGFB2 protein, human
Transforming Growth Factor beta2