Angel shaped phalangoepiphyseal dysplasia
Definition:
References:
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[1]. A Giedion, et al. Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker. Am J Med Genet. 1993 Oct 1;47(5):765-71. [Content Brief]
[2]. Alessandro Castriota-Scanderbeg, et al. Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis. Pediatr Radiol. 2005 May;35(5):535-8. [Content Brief]
[3]. M Holder-Espinasse, et al. Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations. J Med Genet. 2004 Jun;41(6):e78. [Content Brief]
[4]. S Mundlos, et al. The brachydactylies: a molecular disease family. Clin Genet. 2009 Aug;76(2):123-36. [Content Brief]