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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:J Pediatr Genet
Hauptverfasser: Avina Fierro, Jorge Arturo, Avina, Daniel Alejandro Hernández
Format: Artigo
Sprache:Inglês
Veröffentlicht: Georg Thieme Verlag KG 2014
Online Zugang: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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