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Exact(38)
Down syndrome (trisomy 21) is the most common autosomal chromosomal abnormality, affecting 13 22 of every 10,000 live births [5 7].
Cystic Fibrosis (CF) is the most common autosomal recessive disease affecting about 1 in 3200 in Caucasians with increased morbidity, chronic infections, disability and reduced life expectancy.
Proximal SMA is the most common autosomal recessive neurodegenerative disorder.
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) (OMIM +201910) is the most common autosomal recessive disorder.
We have performed a screening for the most common autosomal recessive variants in three genes associated with PD (LRRK2, PRKN and ATXN3).
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most common autosomal recessive disorder with a carrier frequency of 1∶25 to 1∶10.
Similar(22)
Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide.
Cystic fibrosis (CF) is the most common autosomal-recessive disease in the white population [ 1].
Cystic fibrosis (CF) is the most common autosomal-recessive condition affecting the white population, with an incidence ranging between 1 2500 and 1 1800 births.
Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders.
CF is the most common severe autosomal recessive genetic disorder in Caucasians.
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