DermKnowledgeBASE: Albinism deafness Syndrome

Albinism deafness Syndrome

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The text is the summary of recent articles on Albinism deafness Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.

We performed cochlear implantation for two patients with symptomatic hereditary deafness [1]. Deafness in one patient was thought to be a result of albinism-deafness syndrome and in the other patient, a result of chronic Progressive external ophthalmoplegia syndrome [2]. Among them is a region at the centromeric boundary that contains candidate regions for several rare developmental disorders (X-linked recessive hypoparathyroidism, thoracoabdominal syndrome, albinism-deafness syndrome, and Borjeson-Forssman-Lehman syndrome) [3]. The fourth region of transcriptional activity encompasses the FMR1 (FRAXA) and FMR2 (FRAXE) genes [4]. ADFN had been previously mapped to an 8 centi Morgan region on chromosome Xq26 [5].

An in-frame deletion of the MITF gene that is identical at the molecular level to the mouse mi mutant allele has been found in this family [6].

References: 1 , 2 , 3 , 4 , 5 , 6 ,

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