MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
Albrecht
Beate
B
Department of Human Genetics, University of Essen, Essen, Germany.
de Brouwer
Arjan P
AP
Lefeber
Dirk J
DJ
Cremer
Kirsten
K
Hausser
Ingrid
I
Rossen
Nick
N
Wortmann
Saskia B
SB
Wevers
Ron A
RA
Kornak
Uwe
U
Morava
Eva
E
D000015:Abnormalities, Multiple / Q000378:metabolism* / Q000473:pathology*; D000293:Adolescent; D003094:Collagen / Q000378:metabolism*; D020405:Dermis / Q000473:pathology / Q000648:ultrastructure; D004549:Elastin / Q000378:metabolism*; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications; D006056:Golgi Apparatus / Q000378:metabolism* / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D021381:Protein Transport; D013577:Syndrome
D003094:Collagen; D004549:Elastin