Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

BACKGROUND: Pierre-Robin sequence (PRS) is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by mutations in the NF2 gene on chro...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Davidson, Tom B, Sanchez-Lara, Pedro A, Randolph, Linda M, Krieger, Mark D, Wu, Shi-Qi, Panigrahy, Ashok, Shimada, Hiroyuki, Erdreich-Epstein, Anat
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2012
Θέματα:
Case Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3359208/
https://ncbi.nlm.nih.gov/pubmed/22436304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-19
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