Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy.
Gaspar
Harald
H
Michel-Calemard
Laurence
L
Morel
Yves
Y
Wisser
Josef
J
Stallmach
Thomas
T
Schinzel
Albert
A
D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006579:Heterozygote; D006801:Humans; D010290:Parents; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011956:Receptors, Cell Surface / Q000235:genetics
D018389:Codon, Nonsense; C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface