Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by a near-total absence of ...

1 Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, USA 2 Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA 3 Harvard Medical School, ...

ABSTRACT: Polycystic kidney disease (PKD) is an autosomal dominant genetic disorder that causes the formation of multiple cysts in the kidneys, leading to kidney failure. PKD is a common condition ...

Both parents and one healthy daughter were found to be asymptomatic, heterozygous K542N mutation carriers. We provide molecular evidence for autosomal recessive inheritance of HGPS. Furthermore, given ...

Alkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, ...

Belite Bio is a biotech firm specializing in innovative therapies for retinal degenerative eye diseases with high unmet needs ...

By next-generation sequencing of 4 multiplex, autosomal dominant families and 2 simplex, autosomal recessive families with hereditary deafness, we identified a variety of candidate pathogenic variants ...

ABSTRACT: Polycystic kidney disease (PKD) is an autosomal dominant genetic disorder that causes the formation of multiple cysts in the kidneys, leading to kidney failure. PKD is a common condition ...

LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged ...

Families with autosomal dominant, autosomal recessive, and X-linked inheritance have been described. The cardinal abnormalities on examination of patients with pure HSP include spasticity, ...

Pooja, a 30-year-old woman, had been battling kidney failure due to diabetes since 2022. Initially misdiagnosed with an 'O' ...

Sickle cell anaemia is a genetic blood disorder characterised by the production of an abnormal haemoglobin, known as ...