A5103051381- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Genetic and Kidney Cyst Diseases
- Medical Imaging and Pathology Studies
- Renal and related cancers
- Developmental Biology and Gene Regulation
- Chromosomal and Genetic Variations
- Congenital limb and hand anomalies
- Gastrointestinal disorders and treatments
Loma Linda University
2020-2021
Beth Israel Deaconess Medical Center
2005
Abstract LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly in mice, Lmx1b has been shown to play crucial roles the development of limb, eye. Although one functional allele appears adequate for development, null mice display ventral-ventral distal limbs with abnormal kidney, eye cerebellar more disruptive, but fully concordant NPS. In knockouts (KOs),...
Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by variable spectrum of clinical findings. Classical EVC comprises tetrad manifestations chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, involving other organs has also been identified. Hematologic abnormalities have rarely reported in patients with syndrome. Here, we report 3-year-old Hispanic boy marked...
Abstract LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly, in mice Lmx1b has been shown to play crucial roles the development of limb, eye. Although one functional allele murine appears adequate for development, null display ventral-ventral distal limbs with abnormal kidney, eye cerebellar more disruptive, but fully concordant NPS. Interestingly, knockouts...