Holoprosencephaly-like phenotype: Clinical and genetic perspectives

American Journal of Medical Genetics, Part A

Volumn 140, Issue 23, 2006, Pages 2587-2593

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

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

GLI2; Neuroimaging; Normal intelligence; Pituitary tumor; SHH

Indexed keywords

ADOLESCENT; ADULT; CLEFT LIP PALATE; CLINICAL ARTICLE; CONFERENCE PAPER; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GLI2 GENE; HOLOPROSENCEPHALY; HUMAN; HYPOPHYSIS TUMOR; INCISOR; INTELLIGENCE; MALE; NEUROIMAGING; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SELLA TURCICA; SHH GENE; SIX3 GENE; TGIF GENE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; INFANT; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE;

TURCICA;

EID: 33749489898     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31378     Document Type: Conference Paper

References (3)

1. Ribeiro L, El-Jaick K, Muenke M, Richieri-Costa A. 2004. SIX3 and TGIF in holoprosencephaly - Mutations, phenotypes, and imaging. How different are they? 54th Annual Meeting of the American Society of Human Genetics, Abstract # 400.
2. Richieri-Costa A, Ribeiro LA. 2006. Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype. Am J Med Genet Part A (in press).
3. World Health Organization the ICD - 10. 1992. Classifications of mental and behavioral disorders: Clinical descriptor and diagnostic guide lines. Geneva: WHO.