A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.
泰国一名新生儿患者血清 ALP 水平升高，并伴有多种先天性异常-肌张力低下癫痫综合征 3，其 PIGT 基因存在新的纯合错义变异
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26062790
Klangjorhor Jeerawan, Wiwattanadittakul Natrujee, Jaimalai Thanapak, Thongkumkoon Patcharawadee, Noisagul Pitiporn, Khiaomai Ratchadaporn, Sirikaew Nutnicha, Moonsan Nonthanan, Pasena Arnat, Suksakit Pathacha, Teeyakasem Pimpisa, Chaiyawat Parunya, Tengsujaritkul Maliwan
