Disease: Preaxial polydactyly colobomata mental retardation
- Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
- Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes
- Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis
- Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome
- Townes-Brocks Syndrome