Results 121 to 130 of about 69,648 (309)
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients
Clinical Genetics, EarlyView.This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut +7 more
wiley +1 more source
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome
Case Reports in Ophthalmological Medicine, 2011 Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients.
Mihir Kothari +2 more
doaj +1 more source
Diplopia and eye movement disorders.
, 2004 Published ...
Danchaivijitr, C, Kennard, C
core +2 more sources
Clinical Genetics, EarlyView.We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman +11 more
wiley +1 more source
Journal of the Formosan Medical Association, 2019 Background/Purpose: To compare the outcomes of strabismus surgery in patients with Graves’ ophthalmopathy (GO) who had undergone bone removal orbital decompression (BROD) or fat removal orbital decompression (FROD) with those who had not undergone any ...
Jason Kian Seng Lee +3 more
doaj
SENSORIAL RETINAL RELATIONSHIP IN CONCOMITANT STRABISMUS [PDF]
, 1947 Hermann M. Burian
openalex +1 more source
Clinical Genetics, EarlyView.Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm +24 more
wiley +1 more source