Alstr öm syndrome: A case report of the Polish family and a brief review of the differential diagnoses

We report two brothers from Poland, initially diagnosed with cone-rod dystrophy. Analysis of the history and physical examination gave rise to the suspicion that the patients suffered from ALMS. Mutation analysis of ALMS1 gene revealed in both cases two heterozygous nonsense mutations: c.8164C>T (p.Arg2722*) in exon 10 and c.11207C>A (p.Ser3736*) in exon 16, what confirmed the diagnosis. In the context of our case, we review the genetic and clinical features of ALMS, focusing particular on the differential diagnosis and the necessity of molecular testing.
Source: Pediatria Polska - Category: Pediatrics Source Type: research

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Source: Journal of X-Ray Science and Technology - Category: Radiology Tags: J Xray Sci Technol Source Type: research
Publication date: Available online 30 March 2020Source: Molecular and Cellular NeuroscienceAuthor(s): Vidya S. Krishnan, Annemieke Aartsma-Rus, Maurice Overzier, Cathleen Lutz, Laurent Bogdanik, Miranda D. Grounds
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Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
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