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Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these pa...
Autores principales: | Ogura, Hiromi, Ohga, Shouichi, Aoki, Takako, Utsugisawa, Taiju, Takahashi, Hidehiro, Iwai, Asayuki, Watanabe, Kenichiro, Okuno, Yusuke, Yoshida, Kenichi, Ogawa, Seishi, Miyano, Satoru, Kojima, Seiji, Yamamoto, Toshiyuki, Yamamoto-Shimojima, Keiko, Kanno, Hitoshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695726/ https://www.ncbi.nlm.nih.gov/pubmed/33298904 http://dx.doi.org/10.1038/s41439-020-00130-w |
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