[Shprintzen syndrome].
Yano
S
S
Department of Pediatrics and Child Health, Kurume University School of Medicine.
Watanabe
Y
Y
Yoshino
M
M
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D033942:Adaptor Proteins, Vesicular Transport; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D006330:Heart Defects, Congenital / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D001523:Mental Disorders / Q000235:genetics / Q000503:physiopathology; D011379:Prognosis; D011506:Proteins / Q000235:genetics; D013577:Syndrome
D033942:Adaptor Proteins, Vesicular Transport; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human