-
Propionicacidemia (sequence analysis of PCCA gene)
+ info
-
Prosaposin deficiency | Gaucher disease, atypical | Krabbe disease, atypical | Metachromatic leukodystrophy (deletion/duplication analysis of PSAP gene)
+ info
-
Prosaposin deficiency | Gaucher disease, atypical | Krabbe disease, atypical | Metachromatic leukodystrophy (sequence analysis of PSAP gene)
+ info
-
Prostate cancer 1 (sequence analysis of RNASEL gene)
+ info
-
Protein C deficiency (deletion/duplication analysis on PROC gene)
+ info
-
Protein C deficiency (sequence analysis of PROC gene)
+ info
-
Protein S deficiency (deletion/duplication analysis on PROS1 gene)
+ info
-
Protein S deficiency (sequence analysis of PROS1 gene)
+ info
-
Proteus syndrome (frequent somatic mutation, p.Glu17Lys on AKT1 gene)
+ info
-
Proximal symphalangism (sequence analysis of NOG gene)
+ info
-
Pseudoachondroplasia (sequence analysis of COMP gene)
+ info
-
Pseudohermaphroditism with gynecomastia (sequence analysis of HSD17B3 gene)
+ info
-
Pseudohipoparatiroidismo tipo 1A, 1B, 1C | Pseudopseudohipoparatiroidismo | Heteroplasia ósea progresiva | Osteodistrofia de Albright (secuenciación del gen GNAS)
+ info
-
Pseudohyperaldosteronism type 1 (deletion/duplication analysis of NR3C2 gene)
+ info
-
Pseudohypoaldosteronism (NGS panel for 9 genes)
+ info
-
Pseudohypoaldosteronism type I (sequence analysis of NR3C2 gene)
+ info
-
Pseudohypoaldosteronism type I (sequence analysis of SCNN1A gene)
+ info
-
Pseudohypoaldosteronism type IIB (sequence analysis of WNK4 gene)
+ info
-
Pseudohypoaldosteronism type IID (sequence analysis of KLHL3 gene)
+ info
-
Pseudohypoaldosteronism type IIE (sequence analysis of CUL3 gene)
+ info
