Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma

We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother...

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Detalles Bibliográficos
Publicado en:Am J Med Genet A
Main Authors: Ji, Jianling, Quindipan, Catherine, Parham, David, Shen, Lishuang, Ruble, David, Bootwalla, Moiz, Maglinte, Dennis T., Gai, Xiaowu, Saitta, Sulagna C., Biegel, Jaclyn A., Mascarenhas, Leo
Formato: Artigo
Idioma:Inglês
Publicado: 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7521841/
https://ncbi.nlm.nih.gov/pubmed/28371217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38184
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