Positive maternal screening results in Rubinstein-Taybi syndrome.
Lapunzina
P
P
Soler Vigil
V
V
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D000649:Amniocentesis; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005820:Genetic Testing; D006628:Hirsutism / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D009139:Musculoskeletal Abnormalities; D019339:Port-Wine Stain; D011247:Pregnancy