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Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.
Eur J Med Genet. 2017 Jul;60(7):365-368. doi: 10.1016/j.ejmg.2017.04.007. Epub 2017 Apr 13.
Eur J Med Genet. 2017.
PMID: 28414187
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.
Gigante L, Paganini I, Frontali M, Ciabattoni S, Sangiuolo FC, Papi L.
Gigante L, et al. Among authors: ciabattoni s.
Fam Cancer. 2016 Jan;15(1):123-6. doi: 10.1007/s10689-015-9836-6.
Fam Cancer. 2016.
PMID: 26342593
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