14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

BACKGROUND: Chromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2‐1(*600635), and PAX9(*167416) and a distal region (RO2), including...

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Detalles Bibliográficos
Autores principales: Ponzi, Emanuela, Gentile, Mattia, Agolini, Emanuele, Matera, Emilia, Palumbi, Roberto, Buonadonna, Antonia Lucia, Peschechera, Antonia, Gabellone, Alessandra, Antonucci, Maria Fatima, Margari, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336736/
https://www.ncbi.nlm.nih.gov/pubmed/32415730
http://dx.doi.org/10.1002/mgg3.1289

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336736/
https://www.ncbi.nlm.nih.gov/pubmed/32415730
http://dx.doi.org/10.1002/mgg3.1289

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