Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation.
Ribeiro
Lucilene Arilho
LA
Richieri-Costa
Antonio
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D018389:Codon, Nonsense; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities; D053823:Hedgehog Proteins; D006801:Humans; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000473:pathology; D009666:Nose / Q000002:abnormalities*; D015534:Trans-Activators / Q000235:genetics*
D018389:Codon, Nonsense; D053823:Hedgehog Proteins; C509239:SHH protein, human; D015534:Trans-Activators