hyperopia/seizures

The link is saved to the clipboard

ArticlesClinical trialsPatents

Choose sort type

5 results

Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q.

Only registered users can translate articles

BACKGROUND Retinoschisis, or retinal lamellar splitting, can occur in a number of hereditary conditions. The most common cause of congenital or childhood onset retinoschisis is the clinical entity known as juvenile retinoschsis, which is caused by mutations in the X-linked retinoschisis 1 gene.

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

Only registered users can translate articles

Background: Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are

Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.

Only registered users can translate articles

Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral

Progressive hemifacial atrophy. A natural history study.

Only registered users can translate articles

OBJECTIVE To describe two very different natural history courses in 2 patients with hemifacial atrophy. Progressive hemifacial atrophy (Parry-Romberg syndrome, Romberg syndrome, PHA) is characterized by slowly progressive atrophy, frequently involving only one side of the face, primarily affecting

Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

Only registered users can translate articles

Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with

Join our facebook page

Herbal & Natural Medicine

The most complete medicinal herbs database backed by science

Works in 55 languages
Herbal cures backed by science
Herbs recognition by image
Interactive GPS map - tag herbs on location (coming soon)
Read scientific publications related to your search
Search medicinal herbs by their effects
Organize your interests and stay up do date with the news research, clinical trials and patents

Type a symptom or a disease and read about herbs that might help, type a herb and see diseases and symptoms it is used against.
*All information is based on published scientific research