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July 17, 2021Congenital Anomalies

Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly

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Authors

SSSahar SedighzadehShahed UniversityASAlireza SedaghatAhvaz Jundishapur University of Medical SciencesMZMina ZamaniNational Hospital for Neurology and Neurosurgery

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Cite This Study

Sedighzadeh et al. (2021) studied this question.

synapsesocial.com/papers/6a24bd08d753e03433864fdbhttps://doi.org/10.1111/cga.12439
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Also Consider

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  1. 1A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family2017 · 11 citations
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  3. 3Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.32005 · 22 citations
  4. 4Nonsense-mediated mRNA decayin health and disease1999 · 1,004 citations