DermKnowledgeBASE: Albinism deafness Syndrome

Albinism deafness Syndrome

Semantic LIterature Summary Engine (SLISE)

( SLISE(Summary) - Drag this link to bookmarks bar for instant search)

Skin Deep - A Dermatology Blog

Loading........Please wait.

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 ,

Press Refresh to fetch fresh content with references from pubmed. This content was cached on

comments powered by Disqus

|


This is an experimental application for healthcare professionals. The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer.

SkinHelpDesk.com - Evidence based skincare free

About Me

I have varied research interests ranging from eHealth, Health Information Exchange, Clinical Trials and Research, Contact Dermatitis, Bioinformatics, and Cosmetic Dermatology. I have work experience in Canada as an eHealth analyst, and in Dubai and India as a Specialist Dermatologist.

Address

Bell Raj Eapen
Hamilton, ON
Canada