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December 14, 2017Human Genome VariationOpen Access

A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family

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Authors

AKAmjad KhanQuaid-i-Azam UniversityRWRongrong WangUniversity of PittsburghSHShirui HanChinese Academy of Medical Sciences & Peking Union Medical College

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Cite This Study

Khan et al. (2017) studied this question.

synapsesocial.com/papers/6a24bd08d753e03433864fddhttps://doi.org/10.1038/hgv.2017.54
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders2016 · 15 citations
  2. 2Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?1998 · 18 citations
  3. 3Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion2011 · 93 citations