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Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most ...
O serviço de genética clínica no HRAC-USP
(Universidade de São Paulo, Hospital de Reabilitação de Anomalias CraniofaciaisBauru, 2013-08)
O serviço de genética clínica no HRAC-USP.
(Universidade de São Paulo, Hospital de Reabilitação de Anomalias CraniofaciaisBauru, 2011-06)
Auriculo-Condylar Syndrome. Confronting a Diagnostic Challenge
(WILEY-BLACKWELLMALDEN, 2012)
Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. ...
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome
(WILEY-BLACKWELLHOBOKEN, 2012)
Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait ...
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
(Nature Publishing Group, 2015-04-01)
Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are ...