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January 7, 2020American Journal of Medical Genetics Part A

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction

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Authors

FDFrancisca DíazValparaiso UniversityMPManuel ParrónHospital Universitario La PazABAna Barcia‐Ramirez

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Díaz et al. (2020) studied this question.

synapsesocial.com/papers/6a24bd08d753e03433864fdchttps://doi.org/10.1002/ajmg.a.61480
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family2017 · 11 citations
  2. 2Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders2016 · 15 citations
  3. 3Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion2011 · 93 citations
  4. 4Broadening the phenotypic spectrum of POP1 ‐skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia2017 · 24 citations