Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition.
Incontinentia pigmenti is a rare genodermatosis that usually affects female infants.The associated abnormalities involve ocular, dental, skeletal and central nervous systems.
Fluorine is an important trace bio-essential element.Its deficiency or excess related to geological setting can cause organism distortion or supersession abnormality.
The mutation potential of ethephon was by investigated the micronucleus test of bone marrow polychromatophilic erythroblasts (PCE) cells and sperm shape abnormality test in mice.
ECG-gated MRI was performed at 0.5T in 12 patients, aged from 2 months old to 10 years old, for assessment of complex congenital cardiac abnormalities of the asplenia syndrome.
Choanal atresia is often related to the presence of a congenital abnormality and only a few cases involve the occurrence of mucosal fibrosis of the surrounding choana after trauma.