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• W2801363025 startingPage "1341" @default.
• W2801363025 abstract "Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in . It is a rare genetic disorder characterized by the triad of hypoparathyroidism H, sensorineural deafness D, and renal disease R. The defect is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene. Although the syndrome has been phenotypically defined by this triad the literature identifies cases with different components with, or without GATA3 defects making the definition of the syndrome confusing. We analyzed 180 cases and attempted to define the phenotype of the syndrome and suggest guidelines for diagnosis. We suggest that the diagnosis could be confirmed in patients who have all three components, and in those who have two components with a positive family history. GATA3 testing is optional to establish the diagnosis in these patients. The syndrome should be considered in patients with isolated D where other causes of D have been excluded and those with isolated R, especially if there is family history of any of these components. In these instances, confirmatory GATA3 testing is indicated to confirm the diagnosis. In patients with nonsurgical H, where D and R have been conclusively ruled out GATA3 studies are not needed as none of these patients were shown to be GATA3 haploinsufficient. Only 64.4% of patients in our review had HDR. Some findings might have not been recognized or may could have appeared later in life, but it is evident that this syndrome is genotypically heterogeneous." @default.
• W2801363025 created "2018-05-17" @default.
• W2801363025 creator A5041431926 @default.
• W2801363025 creator A5053302380 @default.
• W2801363025 creator A5073795863 @default.
• W2801363025 date "2018-04-16" @default.
• W2801363025 modified "2023-10-11" @default.
• W2801363025 title "Barakat syndrome revisited" @default.
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• W2801363025 doi "https://doi.org/10.1002/ajmg.a.38693" @default.
• W2801363025 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29663634" @default.
• W2801363025 hasPublicationYear "2018" @default.
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