Article
Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
European journal of medical genetics - 1 Jan 2000
Cordero Dwight R, Bendavid Claude, Shanske Alan L, Haddad Bassem R, Muenke Maximilian
Abstract excerpt
Holoprosencephaly-Polydactyly (HPS) or Pseudotrisomy 13 syndrome are names conferred to clinically categorize patients whose phenotype is congruent with Trisomy 13 in the context of a normal karyotype. The literature suggests that this entity may be secondary to submicroscopic deletions in holoprosencephaly (HPE) genes; however, a limited number of investigations have been undertaken to evaluate this hypothesis....
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