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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:J Pediatr Genet
Päätekijät: Avina Fierro, Jorge Arturo, Avina, Daniel Alejandro Hernández
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Georg Thieme Verlag KG 2014
Linkit: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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