Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease.
Kannu
Peter
P
Kelly
Patrick
P
Aftimos
Salim
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D001847:Bone Diseases / Q000235:genetics; D019080:Cafe-au-Lait Spots / Q000235:genetics; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics*; D009072:Moyamoya Disease / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics