Genetic testing for lymphedema-distichiasis syndrome
نویسندگان
چکیده
منابع مشابه
Different lymphscintigraphic patterns in patients with lymphedema distichiasis.
Mutation of the transcription factor FOXC2 gene has been identified as the cause of lymphedema-distichiasis syndrome (LD). Subjects with LD usually present with lower extremity lymphedema and distichiasis--an additional row of eyelashes. Typically, lymphscintigrams of patients with LD show good transport of the radiotracer from the feet to the inguinal lymph nodes accompanied by reflux of trace...
متن کاملLymphoedema-distichiasis syndrome.
To cite: Marques NS, Miranda A, Barros S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-213651 DESCRIPTION A 29-year-old woman with a history of renal cysts, hypertension and lymphoedema-distichiasis syndrome, was referred to ophthalmology, with bilateral blurred vision, hyperaemia and ocular pain, developed over months. The patient had no positive ...
متن کاملGenetic Testing for CADASIL Syndrome
PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these se...
متن کاملGenetic Testing for Rett Syndrome
PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these se...
متن کاملA novel missense mutation and two microrearrangements in the FOXC2 gene of three families with lymphedema-distichiasis syndrome.
Lymphedema-distichiasis (LD) syndrome is a rare autosomal dominant disorder of the FOXC2 gene, which codes for a forkhead transcription factor. Most of the mutations described in this gene to date are deletions or insertions, suggesting a mechanism of haploinsufficiency. We studied three independent families with LD presenting with both lymphedema and distichiasis. Two microrearrangements (one ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2018
ISSN: 2564-615X
DOI: 10.2478/ebtj-2018-0026