Results 321 to 330 of about 4,393,589 (384)

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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, EarlyView.
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

Effect of Accessory Renal Arteries on Essential Hypertension and Related Mechanisms. [PDF]

open access: yesJ Am Heart Assoc
Wu F   +9 more
europepmc   +1 more source

Luspatercept for Transfusion‐Dependent Beta‐Thalassemia: Real‐World Experience in a Large Cohort of Patients From Italy

open access: yes
American Journal of Hematology, EarlyView.
Raffaella Origa   +36 more
wiley   +1 more source

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