Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.
Bergmann
Carsten
C
Brüchle
Nadina Ortiz
NO
Frank
Valeska
V
Rehder
Helga
H
Zerres
Klaus
K
D000328:Adult; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; D014463:Ultrasonography
D005819:Genetic Markers; D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; D017346:Protein Serine-Threonine Kinases