Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)
نویسندگان
چکیده
منابع مشابه
Oculoauriculovertebral spectrum and cerebral anomalies.
We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate, anophthalmia/microphthalmia, or a cardiac defect. Mental retardation was fou...
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Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is characterized by anomalies derived from an abnormal development of the first and second branchial arches, with marked inter and intra-familial phenotypic variability. Main clinical features are defects on aural, oral, mandibular, and vertebral development. Cardiac, pulmonary, renal, skeletal, and central nervous system anomalies have also b...
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The patulous eustachian tube (ET) has been reported as the cause of cholesteatoma, otitis media, and tinnitus. Almost all reports on the patulous eustachian tube mentioned the patulous lumen in cartilaginous portion of the ET and atrophy of peritubal tissue, especially fat tissue. In contrast, enlarged bony portion of the ET is rare (1) and its pathophysiology remains unknown. Radiological stud...
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Heterozygous rare variants in the PINK1 gene, as well as in other genes causing autosomal recessive parkinsonism, have been reported both in patients and healthy controls. Their pathogenic significance is uncertain, but they have been suggested to represent risk factors to develop Parkinson disease (PD). The few large studies that assessed the frequency of PINK1 heterozygotes in cases and contr...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2019
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.959