Article
Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome.
European journal of medical genetics - 1 Oct 2021
Takemori Satoshi, Tanigaki Shinji, Nozu Kandai, Yoshihashi Hiroshi, Uchiumi Yutaro, Sakaguchi Kyoko, Tsushima Kana, Kitamura Aya, Kobayashi Chie, Matsuhima Miho, Tajima Atsushi, Nagano China, Kobayashi Yoichi
Abstract excerpt
Transient antenatal Bartter syndrome due to melanoma-associated antigen D2 gene mutation is a newly reported type of Bartter syndrome. Its characteristics include an X-linked inheritance pattern, early-onset hydramnios, and spontaneous disappearance of symptoms after childbirth. To date, there have been no reports of prenatally diagnosed cases. We herein present the case of a preterm male born to a mother with...
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