Wilms tumor in patients with osteopathia striata with cranial sclerosis

Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes ty...

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Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Bach, Alicia, Mi, Jingyi, Hunter, Matthew, Halliday, Benjamin J., García-Miñaúr, Sixto, Sperotto, Francesca, Trevisson, Eva, Markie, David, Morison, Ian M., Shinawi, Marwan, Willis, Daniel N., Robertson, Stephen P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer International Publishing 2020
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940487/
https://ncbi.nlm.nih.gov/pubmed/32879452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00718-4
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