1, 2), two large metacentric (3, 4), six medium-sized to small submetacentric or subtelocentric (5-10), and 17 acrocentric autosomal
pairs of gradually diminishing size (11-27) (NFa = 70).
dominant polycystic kidney disease (adult polycystic kidney disease, Potter type III disease) is the fourth-most common cause of end-stage renal disease.
ProQR Therapeutics is dedicated to changing lives through the creation of transformative RNA medicines for the treatment of severe genetic rare diseases such as Leber's congenital amaurosis 10, Usher syndrome type 2 and autosomal
dominant retinitis pigmentosa (adRP).
recessive nonsyndromatic retinitis pigmentosa is a genetic condition that manifests as vision loss without associated hearing loss.
Abnormal centrosome and spindle morphology in a patient with autosomal
recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.
On the basis of history, family history, examination and immunodeficiency workup, final diagnosis of autosomal
recessive hyper IgE syndrome (AR-HIES) with partial T lymphocyte deficiency was established.
dominant arteriopathy with subcortical infarcts and leukoencephalopathy: from stroke to vessel wall physiology.
Familial Mediterranean fever is an autosomal
recessive disorder characterized by mutations in the MEFV gene which encodes pyrin.
dominant leukodystrophy (ADLD) is a slowly progressive disorder presents with pyramidocerebellar syndrome.
Allele frequency percentages for 15 autosomal
STR loci in 100 samples from Khuzestan province population of Khuzestan province in Iran.
Harlequin ichthyosis is a severe variant of autosomal
recessive congenital ichthyosis resulting from loss-of-function mutations in the ABCA12 gene on chromosome 2q35, a transporter protein responsible for the formation and function of the lamellar granules.
Within the spectrum of chronic renal disease, autosomal
dominant polycystic kidney disease (ADPKD) accounts for one out of every 400-1000 live births, being a hereditary disorder with cystic and noncystic manifestations as well as extrarenal involvements.