Molecular pathology of Shprintzen-Goldberg syndrome.
Kosaki
Kenjiro
K
Takahashi
Daisuke
D
Udaka
Toru
T
Kosaki
Rika
R
Matsumoto
Morio
M
Ibe
Shigeharu
S
Isobe
Takeshi
T
Tanaka
Yoko
Y
Takahashi
Takao
T
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D017398:Alternative Splicing / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology; D003398:Craniosynostoses / Q000473:pathology*; D004252:DNA Mutational Analysis; D000071837:Fibrillins; D005385:Fingers / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013577:Syndrome
D000071837:Fibrillins; D008840:Microfilament Proteins; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II