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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet. 2018 Mar;55(3):205-213. doi: 10.1136/jmedgenet-2017-104919. Epub 2017 Dec 9.
J Med Genet. 2018.
PMID: 29223973
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
Collod-Béroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C.
Collod-Béroud G, et al. Among authors: lackmy port lys m.
Am J Hum Genet. 1999 Sep;65(3):917-21. doi: 10.1086/302545.
Am J Hum Genet. 1999.
PMID: 10441597
Free PMC article.
No abstract available.
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