Internal medicine (Tokyo, Japan)
Dual Renal and Cardiac Phenotypes Associated with Rare Variants Inherited from Both Parents.
Ryo Aida, Hirofumi Watanabe, Takamitsu Shiiya, Chihiro Sakurazawa, Tadashi Otsuka, Shin Goto, Suguru Yamamoto
Published: 202510.2169/internalmedicine.6003-25
Abstract
We herein report a woman with autosomal dominant Alport syndrome (ADAS) with a family history of left ventricular noncompaction cardiomyopathy (LVNC). Exome sequencing identified a rare heterozygous variant in COL4A4, NM_000092.5: c.2510G>C (p.G837A)…
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