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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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Dettagli Bibliografici
Pubblicato in:J Pediatr Genet
Autori principali: Avina Fierro, Jorge Arturo, Avina, Daniel Alejandro Hernández
Natura: Artigo
Lingua:Inglês
Pubblicazione: Georg Thieme Verlag KG 2014
Accesso online: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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