Literature DB >> 32811240

Foetal phenotype of ALG1-CDG caused by paternal uniparental disomy 16.

Ya-Li Lei1, Li Zhen2, Li-Li Xu2, Yan-Dong Yang3, Dong-Zhi Li2.   

Abstract

Entities:  

Year:  2020        PMID： 32811240     DOI： 10.1080/01443615.2020.1786031

Source DB:  PubMed          Journal:  J Obstet Gynaecol        ISSN： 0144-3615            Impact factor:   1.246


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  2 in total

1.  ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.

Authors:  Ümmühan Öncül; Engin Kose; Fatma Tuba Eminoğlu
Journal:  Mol Syndromol       Date:  2021-09-21

2.  ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.

Authors:  Carlos Alberto González-Domínguez; Moisés O Fiesco-Roa; Samuel Gómez-Carmona; Anke Paula Ingrid Kleinert-Altamirano; Miao He; Earnest James Paul Daniel; Kimiyo M Raymond; Melania Abreu-González; Sandra Manrique-Hernández; Ana González-Jaimes; Roberta Salinas-Marín; Carolina Molina-Garay; Karol Carrillo-Sánchez; Luis Leonardo Flores-Lagunes; Marco Jiménez-Olivares; Anallely Muñoz-Rivas; Mario E Cruz-Muñoz; Matilde Ruíz-García; Hudson H Freeze; Héctor M Mora-Montes; Carmen Alaez-Verson; Iván Martínez-Duncker
Journal:  Front Genet       Date:  2021-09-09       Impact factor: 4.599
  2 in total

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