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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Pediatr Genet
Egile Nagusiak: Avina Fierro, Jorge Arturo, Avina, Daniel Alejandro Hernández
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Georg Thieme Verlag KG 2014
Sarrera elektronikoa: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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