Associated Papers
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.
Ikeda K et al.
Cerebellum (london, England), 2024
An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.
Wang P et al.
Frontiers in Cell and Developmental Biology, 2021
34249907 (PubMed )
Supplement: Table_3.XLSX › Sheet1
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
Yan H et al.
Bmc Medical Genetics, 2019
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