Article

Case report: An adult case of Poretti-Boltshauser syndrome diagnosed by medical checkup.

2024-01-31

Abstract excerpt

<h4>Objectives: </h4> This report describes an adult-onset case of Poretti–Boltshauser syndrome (PTBHS) and with novel variants of LAMA1 . Methods A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. Results The patient...

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Literature Corpus work: cc483926-b103-5e66-a201-6b5920fe6d82
DOI: 10.21203/rs.3.rs-3892643/v1

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