Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
Sign Up to like & getrecommendations! Published in 2021 at "AJP Reports"
DOI: 10.1055/s-0040-1722728
Abstract: 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… read more here.
Keywords: malformative encephalopathy; phenotype; lamb1 causing; variants lamb1 ... See more keywords