8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including se...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Catusi, Ilaria, Garzo, Maria, Capra, Anna Paola, Briuglia, Silvana, Baldo, Chiara, Canevini, Maria Paola, Cantone, Rachele, Elia, Flaviana, Forzano, Francesca, Galesi, Ornella, Grosso, Enrico, Malacarne, Michela, Peron, Angela, Romano, Corrado, Saccani, Monica, Larizza, Lidia, Recalcati, Maria Paola
Formáid: Online Alt Téacs
Teanga:English
Foilsithe / Cruthaithe: MDPI 2021
Ábhair:
Article
Rochtain ar líne:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146486/
https://www.ncbi.nlm.nih.gov/pubmed/33925474
http://dx.doi.org/10.3390/genes12050652

Ar líne

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146486/
https://www.ncbi.nlm.nih.gov/pubmed/33925474
http://dx.doi.org/10.3390/genes12050652

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