Results 51 to 60 of about 1,142,423 (87)
Gene mutation in renal coloboma syndrome.
, 2015 Mutation Taster (http://www.mutationtaster.org) was used to predict potential contributions of individual mutations to disease. Allele frequencies were evaluated using the ExAc database (http://exac.broadinstitute.org). N/A; not appropriate. The score of
Tomomi Higashide (783898) +11 more
core +1 more source
Optic nerve coloboma was severe in patients with PAX2 mutations.
, 2015 Representative images of coloboma scores 0–4 are shown in panel A. Score 0, normal optic disc; Score 1, optic disc dysplasia with an unusual pattern of the retinal vessels and cilioretinal arteries; Score 2, optic disc pit associated with vascular ...
Tomomi Higashide (783898) +11 more
core +1 more source
Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye
, 2016 Chorioretinal coloboma is a congenital defect of the eye caused by improper closure of the embryonic fissure. Optic nerve head drusen (ONHD) are white calcareous deposits that are generally asymptomatic.
Ali Reza Dehghani +5 more
core +1 more source
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1. [PDF]
AJP Rep, 2015 Mansour T +5 more
europepmc +1 more source
Giant palmar lipoma - an unusual cause of carpal tunnel syndrome
Lipoma is a quite common type of soft-tissue tumor, but it is rarely found in the hand. Hand lipomas are generally asymptomatic; however, when they become too large or when they are present in some specific location, they can cause symptoms due to ...
Marta Salgueiro +3 more
core +1 more source
Upper eyelid angiolipoma associated friction in the glide zone. [PDF]
GMS Ophthalmol Cases, 2017 Karaci S +3 more
europepmc +1 more source
Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. [PDF]
Ophthalmic Plast Reconstr Surg, 2015 Tawfik HA, Abdulhafez MH, Fouad YA.
europepmc +1 more source
Madelung's Disease - Case Series and Treatment by Tumescent Liposuction or Lipectomy. [PDF]
Open Access Maced J Med Sci, 2017 Wollina U, Heinig B.
europepmc +1 more source