Class A basic helix-loop-helix protein 9

Definition:

Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis.

References:

[1]. Eva Klopocki, et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet. 2012 Feb;49(2):119-25. [Content Brief]

[2]. Sajid Malik, et al. Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. Am J Hum Genet. 2014 Dec 4;95(6):649-59. [Content Brief]

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