Molecular characterisation of a new case of      microphthalmia with linear skin defects (MLS).
Kayserili
H
H
Cox
T C
TC
Cox
L L
LL
Basaran
S
S
Kiliç
G
G
Ballabio
A
A
Yüksel-Apak
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017398:Alternative Splicing; D002872:Chromosome Deletion; D005145:Face; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009333:Neck; D012729:Sex Chromosome Aberrations; D012868:Skin Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome
C109971:ARHGAP6 protein, human; D020690:GTPase-Activating Proteins