Article

Prenatal Diagnosis of Poretti-Boltshauser Syndrome: A Case of Live Birth with Confirmed LAMA1 Variants

2026-03-27

Abstract excerpt

<title>Abstract</title> <p>Introduction: Poretti-Boltshauser syndrome (PBS; OMIM #615960) is a rare autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants in the LAMA1 gene. It is characterized by cerebellar dysplasia with cyst formation, inferior vermian hypoplasia, and progressive visual impairment. Case presentation: Inferior vermian hypoplasia and right renal agenesis detect...

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Literature Corpus work: b2795b43-3d13-5808-b9a2-cb8038248ca6
DOI: 10.21203/rs.3.rs-9107536/v1

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