First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report. BMC Med Genet. 2018 09 15; 19(1):170.

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subject areas

Adult
Albinism, Oculocutaneous
Aorta
Child
Dilatation, Pathologic
Female
Gene Expression
Germ-Line Mutation
Humans
Loeys-Dietz Syndrome
Magnetic Resonance Angiography
Male
Maternal Inheritance
Mosaicism
Mutation, Missense
Myocardium

authors with profiles

Luca Vricella