osteosclerosis/seizures

The link is saved to the clipboard

ArticlesClinical trialsPatents

Choose sort type

5 results

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

Only registered users can translate articles

The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43. SSS resembles the autosomal recessive form of

A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.

Only registered users can translate articles

Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal-recessive disorder and a distinctive type of osteopetrosis, characterized mainly by skeletal fractures and deformity, osteosclerosis, and sometimes hypotonia, developmental delay, and seizures. Sequence variants in the leucine-rich

Non lethal Raine syndrome and differential diagnosis.

Only registered users can translate articles

Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized osteosclerosis. Amelogenesis imperfecta, hearing loss, seizures, and intracerebral calcification are apparent in some affected individuals. Originally, Raine

Natural history of non-lethal Raine syndrome during childhood.

Only registered users can translate articles

Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings

Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia.

Only registered users can translate articles

Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis. The disease usually presents within the first few months of life with anemia, hepatosplenomegaly, frontal

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