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Epstein s syndrome
LE WE PMID CA
Epstein s syndrome12170Epstein Syndrome

11 beta HSD (BASKET)

17 alpha Hydroxylase

Acidosis (RTA1 distal)

Acidosis (RTA2 proximal)

Action Myoclonus Renal Failure Syndrome

ACTN4 Alpha actinin4

AE1

Alkaptonuria

Aminoacidurias

Aniridia Wilms syndrome

Autosomal recessive rickets with craniostenosis and deafness

AVPR2

Blue diaper syndrome

Calcitriol resistance

Carboanhydrase II

CD151 Tetraspanin

CD2AP

Coenzyme Q10

COL4A3

COL4A4

COL4A5

COL4A6

Congenital nephrotic syndrome finnish type

COQ2

CYP11B2 aldosterone synthase

Cystathioninuria

Cytochrome c oxidase deficiency

Denys Drash syndrome

Dicarboxylic aminoaciduria

Early onset familial nephrotic syndrome

Epstein s syndrome

familial hypophosphatemic osteomalacia

Fechtner s syndrome

Frasier s syndrome

Fructose 1 phosphate aldolase

Galactose 1 phosphate uridyl transferase

Galloway Mowat s syndrome

GALNT3

Gluco Glycinuria

Glucosuria with renal phosphate diabetes

GMS1

H ATPase A4 subunit

H ATPase B1 subunit

Hartnup s syndrome

Hypercystinuria isolated

Hyperdibasic aminoaciduria I

Hyperhistidinuria

Hypomagnesiemia congenital primary

Hypophosphatemic nonrachitic bone disease

Iminoglycinuria

Jadassohn s linear sebaceous nevus

Jansen s disease

Kidney (CNS Finnish type)

Kidney (Collagenofibrotic nephropathy)

Kidney (Diffuse mesangial sclerosis)

Kidney (Fibronectin Glomerulopathy)

Kidney (FSGS)

Kidney (Hematuria benign)

LAMB2 Laminin beta2

Laminin

LMNA Lamin C Prelamin A

LMX1B

Mandibuloacral dysplasia

May Hegglin anomaly

MERRF

MULIBREY dysplasia

MYH9

Nail patella syndrome

NARP syndrome

NBC1

NCCT

Nipples supernumerary

NPHS1 Nephrin

NPHS2

PAT1

Perlman syndrome

Phosphatidylinositol bisphosphate phosphatase

Phospholipase C epsilon

Pierson s syndrome

Pierson Zenker syndrome

PLCE1

Podocin

Proline (Hyperprolinemia)

Pseudotumoral calcinosis

Receptor (PTH)

ROMK

SCARB2

Schimke immunoosseous dysplasia

Schwachmann Bodian syndrome

Sclerema neonatorum

Sebastian s syndrome

SLC3A1

SLC6A19

SLC7A9

SMARCALI

Steroid resistant nephrotic syndrome SRN1

TRPC6

WT1

Xanthinuria

ZMPSTE24

2009  
1
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
[19562370] Eur J Pediatr 168(11): 1291-304 (2009)
2011  
2
Mechanism of cluster DNA damage repair in response to high-atomic number and energy particles radiation.
[21126526] Mutat Res 711(1-2): 87-99 (2011)

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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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