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PedAM

Pediatric Disease Annotations & Medicines




Disease synostosis
Phenotype C0040034|thrombocytopenia
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PubMedID- 25881986 Individual mutations in some hoxa genes as hoxa1, hoxa2, hoxa11, and hoxa13 are known to cause respectively athabaskan brainstem dysgenesis syndrome (omim #601536), microtia, hearing impairment and cleft palate (omim #612290), radioulnar synostosis with amegakaryocytic thrombocytopenia (omim #605432), and hand-foot-genital syndrome (hfgs, omim#140000) or guttmacher syndrome (gutts omim #176305) [1].

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