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Holoprosencephaly-polydactyly syndrome: in search of an etiology

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 HPE genes...

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Bibliografische gegevens
Hoofdauteurs: Cordero, Dwight R, Bendavid, Claude, Shanske, Alan L, Haddad, Bassem R, Muenke., Maximilian
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2007
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2441840/
https://ncbi.nlm.nih.gov/pubmed/18178536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2007.08.004
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