Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

• 主要な著者: Kuntal Sen (著者), Shagun Kaur (著者), David W. Stockton (著者), Mary Nyhuis (著者), Jacquelyn Roberson (著者)
• フォーマット: 図書
• 出版事項: Thieme Medical Publishers, Inc., 2021-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Case Report A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies...