Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition characterised by metaphyseal striations, macrocephaly, cleft palate, and developmental delay in affected females. Males have a more severe phenotype with multi-organ malformations, and rarely survive. To date, only f...

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Vydáno v:Genes (Basel)
Hlavní autoři: Mi, Jingyi, Parthasarathy, Padmini, Halliday, Benjamin J., Morgan, Tim, Dean, John, Nowaczyk, Malgorzata J. M., Markie, David, Robertson, Stephen P., Wade, Emma M.
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7760256/
https://ncbi.nlm.nih.gov/pubmed/33265914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121439
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