Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder

Clinical Genetics

Volumn 66, Issue 1, 2004, Pages 79-80

  Bertola, Debora Romeo ^a   Kim, C A ^b   Albano, L M J ^b   Scheffer, H ^b   Meijer, R ^b   van Bokhoven, H ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYTOSINE; DNA BINDING PROTEIN; ISOLEUCINE; PHENYLALANINE; PROLINE; PROTEIN P63; SERINE; THREONINE; THYMINE;

ALLELE; AMINO ACID SUBSTITUTION; CASE REPORT; CHROMOSOME ANALYSIS; CLEFT LIP PALATE; ECTODERMAL DYSPLASIA; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RAPP HOGDKIN SYNDROME; TRANSACTIVATION;

CLEFT LIP; CLEFT PALATE; DNA-BINDING PROTEINS; ECTODERMAL DYSPLASIA; FEMALE; GENES, TUMOR SUPPRESSOR; HUMANS; MALE; MUTATION; PHOSPHOPROTEINS; PROTEIN STRUCTURE, TERTIARY; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 3242710577     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00278.x     Document Type: Letter

References (12)

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