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Updated: Nov 18, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

Kuntal Sen1, Shagun Kaur2, David W Stockton2

  • 1Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington, District of Columbia.

AJP Reports
|February 5, 2021
PubMed

Keywords:
LAMB1hydranencephalywhole genome sequencingα-dystroglycanopathy

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