Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation [3]

American Journal of Medical Genetics

Volumn 136 A, Issue 4, 2005, Pages 348-349

  Ribeiro, Lucilene Arilho ^a   Richieri Costa, Antonio ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN MALFORMATION; CASE REPORT; CLEFT LIP; CLINICAL EXAMINATION; CRANIOFACIAL MALFORMATION; FACIES; FRONTAL LOBE; GENE; GENE MUTATION; HUMAN; INTERHEMISPHERIC FUSION; LETTER; MALE; MICROCEPHALY; NEUROPATHOLOGY; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SHH GENE; SINGLE NOSTRIL NOSE;

ABNORMALITIES, MULTIPLE; BRAIN; CODON, NONSENSE; FACE; FACIAL BONES; HEDGEHOG PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MICROCEPHALY; NOSE; TRANS-ACTIVATORS;

EID: 23044441534     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30626     Document Type: Letter

References (2)

1. Cohen MM Jr. 1989. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-288.
2. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. 1999. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 8:2479-2488.