Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.
Sangiuolo
Federica
F
Filareto
Antonio
A
Giardina
Emiliano
E
Nardone
Anna Maria
AM
Pilu
Gianluigi
G
Pietropolli
Adalgisa
A
Bertini
Enrico
E
Novelli
Giuseppe
G
D015193:Chorionic Villi Sampling; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011272:Pregnancy, Multiple; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000235:genetics; D017421:Sequence Analysis; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors