A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

Human mutation

Volumn 23, Issue 3, 2004, Pages 286-

  Pizzuti, Antonio ^a   Flex, Elisabetta ^a   Mingarelli, Rita ^a   Salpietro, Carmelo ^a   Zelante, Leopoldo ^a   Dallapiccola, Bruno ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 43;

ARTICLE; CHILD; CODON; GENETICS; HALLERMANN STREIFF SYNDROME; HOMOZYGOTE; HUMAN; LIMB MALFORMATION; MALE; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD; CODON; CONNEXIN 43; DNA MUTATIONAL ANALYSIS; HALLERMANN'S SYNDROME; HOMOZYGOTE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PHENOTYPE; POINT MUTATION; TOOTH ABNORMALITIES;

EID: 1642324567     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9220     Document Type: Article

References (0)