Differentiating campomelic dysplasia from Cumming syndrome.
Watiker
Valerie
V
Lachman
Ralph S
RS
Wilcox
William R
WR
Barroso
Inês
I
Schafer
Alan J
AJ
Scherer
Gerd
G
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000473:pathology; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology*; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D055758:SOX9 Transcription Factor; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors; D004247:DNA