choroideremia/surzenie

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Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.

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OBJECTIVE To identify the mutation leading to syndromic choroideremia (CHM) in two families and to define fundus autofluorescence (FAF) in CHM carriers. METHODS The ophthalmic and clinical phenotype was investigated including FAF, neuropediatric, otorhinolaryngologic, cardiologic, and nephrologic

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.

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BACKGROUND Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular

Clinical diagnoses that overlap with choroideremia.

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OBJECTIVE To understand which clinical presentations suggest a diagnosis of choroideremia (CHM). METHODS Retrospective chart review. Included were patients for whom a clinical diagnosis of CHM was suggested, but either protein analysis or direct sequencing of the CHM gene could not confirm the

Four systems involved with congenital abnormalities: a new type of syndromic hearing loss - ADOC Wang's syndrome?

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Syndromic hearing impairment encompasses hundreds of phenotypes. We identified a young female patient affected by the unique combination of dysplasia of the auricular system, patent ductus arteriosus (PDA), choroideremia, and enamel hypoplasia. The patient was treated with PDA ligature and left

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.

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BACKGROUND Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. METHODS Here we describe a 17-year-old male

Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray.

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We present a single case of a young man with multiple congenital anomalies. For years, a unifying diagnosis could not be made. As his case developed, more clues came to light, but still no recognizable pattern could be identified. Ultimately, the combination of orofacial clefting, neurosensory

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

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X-linked syndromes associated with developmental delay and sensorineural hearing loss (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and Norrie disease. In this study we report on a novel X-linked recessive, congenital syndrome in a family with

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