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.
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| Title: | 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. |
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| Authors: | Klangjorhor, Jeerawan1,2,3 (AUTHOR), Wiwattanadittakul, Natrujee2,4 (AUTHOR), Jaimalai, Thanapak1,3 (AUTHOR), Thongkumkoon, Patcharawadee1,4 (AUTHOR), Noisagul, Pitiporn1 (AUTHOR), Khiaomai, Ratchadaporn1,2 (AUTHOR), Sirikaew, Nutnicha1,3 (AUTHOR), Moonsan, Nonthanan4 (AUTHOR), Pasena, Arnat1 (AUTHOR), Suksakit, Pathacha1 (AUTHOR), Teeyakasem, Pimpisa3 (AUTHOR), Chaiyawat, Parunya1,3 (AUTHOR), Tengsujaritkul, Maliwan4 (AUTHOR) |
| Source: | International Journal of Molecular Sciences. Mar2025, Vol. 26 Issue 6, p2790. 16p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 16616596 |
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| DOI: | 10.3390/ijms26062790 |
