Middle and inner ear malformations in mutation‐proven branchio‐oculo‐facial (BOF) syndrome: Case series and review of the literature
暂无分享,去创建一个
B. Papsin | W. Reardon | W. Meschino | J. Milunsky | D. Chitayat | S. Blaser | R. Babul‐Hirji | M. Carter | R. Klatt
[1] E. Bieth,et al. [Branchio-oculo-facial syndrome]. , 2020, Annales de dermatologie et de vénéréologie.
[2] W. Reardon,et al. Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome , 2011, American journal of medical genetics. Part A.
[3] C. Cremers,et al. Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene , 2010, The Annals of otology, rhinology, and laryngology.
[4] H. Dollfus,et al. Confirmation of TFAP2A gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies , 2009, American journal of medical genetics. Part A.
[5] M. Tekin,et al. A complex TFAP2A allele is associated with branchio‐oculo‐facial syndrome and inner ear malformation in a deaf child , 2009, American journal of medical genetics. Part A.
[6] Geping Zhao,et al. TFAP2A mutations result in branchio-oculo-facial syndrome. , 2008, American journal of human genetics.
[7] D. Müller,et al. Exclusion of genes from the EYA‐DACH‐SIX‐PAX pathway as candidates for Branchio–Oculo–Facial syndrome (BOFS) , 2007, American journal of medical genetics. Part A.
[8] B. Papsin,et al. Temporal Bone Findings on Computed Tomography Imaging in Branchio‐Oto‐Renal Syndrome , 2005, The Laryngoscope.
[9] W. Casselman,et al. Temporal Bone Anomalies in the Branchio-Oto-Renal Syndrome: Detailed Computed Tomographic and Magnetic Resonance Imaging Findings , 2002, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.
[10] W. Reardon,et al. Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. , 2000, QJM : monthly journal of the Association of Physicians.
[11] W. Reardon,et al. Radiological malformations of the ear in Pendred syndrome. , 1998, Clinical radiology.
[12] H. Brunner,et al. Further delineation of the branchio-oculo-facial syndrome. , 1995, American journal of medical genetics.