期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (1)
Thyroid dysgenesis (TD) accounts for 80% cases of congenital hypothyroidism, which is the most common neonatal disorder. Until now, the gene mutations......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (4)
Leigh syndrome (LS), the most common mitochondrial disease in early childhood, usually manifests variable neurodegenerative symptoms and typical brain......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (5)
The aim of this study was to determine the predictive value of expanded noninvasive prenatal testing (NIPT-plus) for fetal chromosome abnormalities in......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (2)
This study aimed to identify the disease-causing gene of three Chinese families with glaucoma. Whole exome sequencing was performed on the probands an......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (6)
KBG syndrome (OMIM #148050) is an autosomal dominant neurodevelopmental disorder characterized by the presence of macrodontia of the permanent central......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (8)
Ventricular septal defect (VSD) is the most common congenital heart disease. Although the coding region of MEF2C is highly relevant to cardiac malform......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3)
Giant axonal neuropathy (GAN) is a progressive disease that involves the peripheral and central nervous systems. This neurodegenerative disease is cau......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (10)
The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder, remain elusive for similar to 20%-35% of pa......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3)
DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in the WAC......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (1)
Disco-interacting protein 2 C (DIP2C) encodes a disco-interacting protein and is highly expressed in the nervous system. Most variants of DIP2C are mi......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (5)
Beckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features nam......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (1)
Hartnup disease cases were rare, and the genotype-phenotype correlation was not fully understood. Here we reported two unrelated young men diagnosed a......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (10)
Pathogenic variants in the v-maf avian musculoaponeurotic fibrosarcoma oncogene homologue (MAF) encoding a transcription factor (from a unique subclas......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (1)
The proband with congenital heart disease and abnormal thumb was clinically diagnosed as Holt-Oram syndrome (HOS). A novel variant, T-box transcriptio......
期刊： AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3)
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder, inherited by the defective SLC19A2 gene that encodes a hi......
