Publications by authors named "Antonio Miguel Poyatos-Andujar"
Our study aims to comment on all ADPKD variants identified in our health area and explain how they are distributed geographically, to identify new variants, and relate the more frequent variants with their renal phenotype in terms of kidney survival. We identified patients suffering from ADPKD in a specialized consultation unit; genealogical trees were constructed from the proband. According to the ultrasound-defined modified Ravine-Pei criteria, relatives classified as at risk were offered participation in the genetic study.
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- - Clinical exome sequencing helps tackle the diverse range of clinical and genetic variations seen in mucopolysaccharidosis (MPS).
- - The information gained from this sequencing can assist in prenatal diagnosis for MPS VII, a specific type of MPS.
- - It also supports genetic counseling and preimplantation genetic testing for families affected by MPS.