Molecular mechanisms determining severity in patients with Pierson syndrome
نویسندگان
چکیده
منابع مشابه
The first Chinese Pierson syndrome with novel mutations in LAMB2.
BACKGROUND Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes. LAMB2 was the causative gene. METHODS A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing. RESULTS Two novel mutations were identified, C757fsX767 and P141...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2020
ISSN: 1434-5161,1435-232X
DOI: 10.1038/s10038-019-0715-0