Article
Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
American journal of medical genetics. Part A - 1 Feb 2016
Bosson Caroline, Devillard Françoise, Satre Véronique, Dieterich Klaus, Ray Pierre F, Morand Béatrice, Dubois-Teklali Fanny, Vieville Gaëlle, Andrieux Joris, Brouillet Sophie, Amblard Florence, Jouk Pierre-Simon, Coutton Charles
Abstract excerpt
Several studies have recently reported that 22q12.1 deletions encompassing the MN1 gene are associated with craniofacial anomalies. These observations are consistent with the hypothesis that MN1 haploinsufficiency may be solely responsible for craniofacial anomalies and/or cleft palate. We report here the case of a 4-year-old boy presenting with global developmental delay and craniofacial anomalies including...
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