Results 321 to 330 of about 511,957 (402)

Two Cases of Rubinstein-Taybi Syndrome With Retinal Detachment. [PDF]

open access: yesCureus
Kawaguchi N   +4 more
europepmc   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

Recurrent Rhegmatogenous Retinal Detachment: Characteristics, Risk Factors, and Outcomes. [PDF]

open access: yesTher Clin Risk Manag
Aleshawi A   +8 more
europepmc   +1 more source

Surgical Outcomes of Primary Noncomplex Rhegmatogenous Retinal Detachment in 20- to 45-Year-Old Young Adults. [PDF]

open access: yesJ Vitreoretin Dis
Ammar MJ   +18 more
europepmc   +1 more source

Retinal detachment in Nigerians: a multicentre cross-sectional study on demographics, risk factors for blindness and surgical outcomes in a developing country. [PDF]

open access: yesBMJ Open
Okonkwo ON   +9 more
europepmc   +1 more source

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