Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder

Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature...

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Vydáno v:Einstein (Sao Paulo)
Hlavní autoři: Lin, Jaime, de Souza-Lin, Gigliolle Romancini, Antunes, Fernanda Coan, Wessler, Letícia Burato, Streck, Emílio Luiz, Gonçalves, Cinara Ludvig
Médium: Artigo
Jazyk:Inglês
Vydáno: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7279891/
https://ncbi.nlm.nih.gov/pubmed/32578677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.31744/einstein_journal/2020RC5335
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