Hypophosphatasia due to uniparental disomy.
Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. Electronic address: miroslava.hancarova@lfmotol.cuni.cz.
Miroslava
M
Hancarova
Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Anna
A
Krepelova
Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Alena
A
Puchmajerova
Department of Pediatrics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Ondrej
O
Soucek
Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Darina
D
Prchalova
Department of Pediatrics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Zdenek
Z
Sumnik
Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Zdenek
Z
Sedlacek
D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications*; D008297:Male; D011247:Pregnancy; D024182:Uniparental Disomy / Q000235:genetics*
Homozygosity; Hypophosphatasia; Mendelian inconsistency; Uniparental disomy