Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay

• Autori principali: Ji Yoon Han (Autore), Hyun Jeong Kim (Autore), Ja Hyun Jang (Autore), In Goo Lee (Autore), Joonhong Park (Autore)
• Natura: Libro
• Pubblicazione: Frontiers Media S.A., 2020-09-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...