Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical Publishers, Inc.
2021-01-01
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| Series: | American Journal of Perinatology Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1722728 |