Triphalangeal thumb-polysyndactyly syndrome
Definition:
References:
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[1]. Jerzy Gosk, et al. Rare triphalangeal thumb polydactyly: a case report. J Plast Reconstr Aesthet Surg. 2011 Jun;64(6):e165-6. [Content Brief]
[2]. Laura A Lettice, et al. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet. 2003 Jul 15;12(14):1725-35. [Content Brief]
[3]. Muhammad Farooq, et al. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet. 2010 Jun;18(6):733-6. [Content Brief]
[4]. Zhi-Qiang Wang, et al. A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. Biochem Biophys Res Commun. 2007 Apr 6;355(2):312-7. [Content Brief]
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