Cystinosis is an autosomal recessive disorder. It is characterized by an accumulation of intra-lysosomal cystine caused by a defect in cystine transport across the lysosomal membrane. 1 Cystinosis is ...
Prenatal trisomy 7 is usually a cell culture artifact in amniocytes with normal diploid karyotype at birth and normal fetal outcome. In the same way, true prenatal trisomy 7 mosaicism usually results ...
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