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Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

The Pitt-Hopkins syndrome is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with facial dysmorphism. It was first described in 1978 in patients with mental retardation and crisis of intermittent hyperventilation. The genetic cause is...

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Bibliografiske detaljer
Udgivet i:J Pediatr Genet
Main Authors: Avina Fierro, Jorge Arturo, Avina, Daniel Alejandro Hernández
Format: Artigo
Sprog:Inglês
Udgivet: Georg Thieme Verlag KG 2014
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020997/
https://ncbi.nlm.nih.gov/pubmed/27625870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14094
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