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Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature
Genetic Testing and Molecular Biomarkers ( IF 1.4 ) Pub Date : 2021-06-16 , DOI: 10.1089/gtmb.2020.0311 Ayberk Turkyilmaz 1 , Bilgen Bilge Geckinli 2 , Ceren Alavanda 2 , Esra Arslan Ates 3 , Esra Esim Buyukbayrak 4 , Sirin Funda Eren 5 , Ahmet Arman 2
Genetic Testing and Molecular Biomarkers ( IF 1.4 ) Pub Date : 2021-06-16 , DOI: 10.1089/gtmb.2020.0311 Ayberk Turkyilmaz 1 , Bilgen Bilge Geckinli 2 , Ceren Alavanda 2 , Esra Arslan Ates 3 , Esra Esim Buyukbayrak 4 , Sirin Funda Eren 5 , Ahmet Arman 2
Affiliation
Background: Meckel–Gruber syndrome (MKS; OMIM No. 249000) is a rare, in utero lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly.
中文翻译：
Meckel-Gruber 综合征：两个胎儿的临床和分子遗传特征以及现有文献回顾
背景： Meckel-Gruber 综合征（MKS；OMIM 编号 249000）是一种罕见的宫内致死性疾病，其特征是枕部脑膨出、多囊肾和多指畸形。
更新日期：2021-06-22
中文翻译：
Meckel-Gruber 综合征：两个胎儿的临床和分子遗传特征以及现有文献回顾
背景： Meckel-Gruber 综合征（MKS；OMIM 编号 249000）是一种罕见的宫内致死性疾病，其特征是枕部脑膨出、多囊肾和多指畸形。
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