Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia.
James
Paul A
PA
Shaw
Janet
J
du Sart
Desiree
D
Craig
Ellen
E
Bateman
John F
JF
Savarirayan
Ravi
R
D000328:Adult; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000196:embryology / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital / Q000235:genetics*; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis