期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (7)
We describe a sibling pair of Mennonite origin born from consanguineous parentage with a likely new phenotype of limb-girdle muscular dystrophy, short......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (6)
Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractures and is caused by mut......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (7)
Multilocus imprinting disturbances (MLID) have been associated with up to 12% of patients with Beckwith-Wiedemann syndrome, Silver-Russell syndrome, a......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (8)
Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for similar to 25% of all congenital heart......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (9)
Gitelman syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by loss of function in the SLC12A3 gene (NM_000339.2), which enc......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (1)
Children with autism spectrum disorder (ASD) routinely undergo genetic testing (GT) to identify the causative genetic etiology of their ASD. As there ......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (1)
Large international consortia examining the genomic architecture of the epilepsies focus on large diagnostic subgroupings such as all focal epilepsy a......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (2)
The study aimed to explore how having achondroplasia affects older children and adolescents' day-to-day functioning and well-being. Individual/focus g......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (4)
The DST gene is located on chromosome 6p and encodes for a large protein. Alternative splicing of this protein produces the neuronal (a1-a3), muscular......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (5)
Genetic mosaicism caused by postzygotic mutations is of a great interest due to its role in human disease. Monozygotic twins arising from a single zyg......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (5)
Female FMR1 premutation (FMR1 PM) carriers for fragile X syndrome (FXS) are at risk to have a child with FXS based on their CGG repeat size and AGG in......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (9)
The Undiagnosed Disease Program in South Africa (UDP) sought to prospectively evaluate the clinical utility of exome sequencing (ES) in a phenotypical......
