Now showing items 1-5 of 5
A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child
(GEORG THIEME VERLAG KG, 2019-04)
Cockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who ...
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
(CELL PRESS, 2019-07-03)
Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely ...
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
(NATURE PUBLISHING GROUP, 2019-02-12)
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological ...
Unusual hair findings in a child with cardiofaciocutaneous syndrome
Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)
(TAYLOR & FRANCIS INC, 2019-02-01)
Background: Febrile seizure is the most common childhood neurological disorder, is an important health problem with potential short- and long-term complications, also leading to economic burden and increased parental anxiety ...