Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship

BACKGROUND: A very limited spectrum of ASCC1 pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016. METHODS: A proband from a non‐consanguineous Chinese family presented with neonatal seve...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Mol Genet Genomic Med
Κύριοι συγγραφείς: Lu, Weiliang, Liang, Mingxing, Su, Jiasun, Wang, Jin, Li, Lingxiao, Zhang, Shujie, Qin, Zailong, Huang, Limei, Lu, Yingchi, Yi, Shang, Yi, Sheng, Xie, BoBo, Zheng, Haiyang, Luo, Jingsi, Gao, Xiaoyan, Shen, Yiping
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: John Wiley and Sons Inc. 2020
Θέματα:
Clinical Reports
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216800/
https://ncbi.nlm.nih.gov/pubmed/32160656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1212
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