Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

American Journal of Medical Genetics, Part A

Volumn 152, Issue 7, 2010, Pages 1688-1694

  Ribeiro, Lucilene Arilho ^a   Quiezi, Rodrigo Gonçalves ^a   Nascimento, Adriana ^a   Bertolacini, Claudia Pereira ^a   Richieri Costa, Antonio ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

GAS1; GLI2; HPE; HPE L; PTCH1; SHH

Indexed keywords

PROTEIN; PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI2; TRANSCRIPTION FACTOR SIX3; TRANSFORMING GROWTH BETA INDUCED FACTOR; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; GAS1 PROTEIN, HUMAN; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; MEMBRANE PROTEIN;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DNA SEQUENCE; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GROWTH ARREST SPECIFIC GENE 1; HOLOPROSENCEPHALY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; TERATOCARCINOMA DERIVED GROWTH FACTOR 1 GENE; TRANSFORMING GROWTH BETA INDUCED FACTOR GENE; ZIC2 GENE; ADULT; BRAZIL; CHILD; FACIES; GENETICS; INFANT; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PREGNANCY; PRESCHOOL CHILD;

ADULT; BASE SEQUENCE; BRAZIL; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; FACIES; FEMALE; GPI-LINKED PROTEINS; HOLOPROSENCEPHALY; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUTATION; PREGNANCY;

EID: 77954129042     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33466     Document Type: Article

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