4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood-Reference-Cited by-同舟云学术

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

Published:2017-05-25 Issue:8 Volume:173 Page:2289-2292
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gaspar Harald¹,Lutz Bernd²,Reicherter Kerstin³,Lühl Simon⁴,Taurman Rita²,Gabriel Heinz³,Brenner Rolf E.⁵,Borck Guntram¹^ORCID

Affiliation:

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

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes;Baetens;Human Mutation,2011

2. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye;Boehm;Human Mutation,2004

3. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome;Boileau;Nature Genetics,2012

4. The loss of Smad3 results in a lower rate of bone formation and osteopenia through dysregulation of osteoblast differentiation and apoptosis;Borton;Journal of Bone and Mineral Research,2001

5. TGF-beta signalopathies as a paradigm for translational medicine;Cannaerts;European Journal of Medical Genetics,2015

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype;American Journal of Medical Genetics Part A;2022-04-15

2. Ocular Manifestations of Loeys–Dietz Syndrome;EMJ Rheumatology;2022-03-28

3. Whole Genome Sequencing Unravels New Genetic Determinants of Early-Onset Familial Osteoporosis and Low BMD in Malta;Genes;2022-01-23

4. Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2;Genes;2021-09-22

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