Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion.
Micheil Innes
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A
Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003315:Cornea / Q000002:abnormalities; D019465:Craniofacial Abnormalities / Q000473:pathology*; D003456:Cryptorchidism / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome