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Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and is caused by in the EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present a female infant with a de novo EFNB1 missense mutation t...
Autores principales: | Han, Ji Yoon, Kim, Hyun Jeong, Jang, Ja Hyun, Lee, In Goo, Park, Joonhong |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7490291/ https://www.ncbi.nlm.nih.gov/pubmed/32984200 http://dx.doi.org/10.3389/fped.2020.00461 |
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