Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type - Concepedia

Concepedia

Publication | Open Access

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

DOI Full Paper Access

31

Citations

30

References

2015

Year

Ricarda Flöttmann, Johannes Maximilian Wagner, Karolina Kobus, Cynthia J. Curry, Ravi Savarirayan, Gen Nishimura, Natsuo Yasui, J. Spranger, Hilde Van Esch, Michael J. Lyons,

Journal of Medical Genetics

Abstract

Our data indicate that the distinct deletion 6p22.3 is associated with mesomelic dysplasia Savarirayan type featuring hypoplastic, triangular-shaped tibiae and abnormally shaped or hypoplastic fibulae.

References

	Year	Citations

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