Homozygosity Deformations
Nov. 15, 2024
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation | PNAS Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W | Journal of Medical Genetics Macroscopic appearance of four fetuses homozygous for the c.1724T>C;... | Download Scientific Diagram SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome | Nature Genetics Frontiers | A Novel Homozygous Variant in GJA1 Causing a Hallermann-Streiff/Oculodentodigital Dysplasia Overlapping Phenotype: A Clinical Report Genes | Free Full-Text | Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis | Homozygosity Deformations