A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family

European Journal of Medical Genetics

Volumn 57, Issue 1, 2014, Pages 21-24

  Sher, Gulab ^a   Naeem, Muhammad ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

BMP; Brachydactyly; CHSY1; Mutation; Signaling; Syndrome

Indexed keywords

ASPARAGINE; GENOMIC DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CHSY1 GENE; CLINICAL FEATURE; DNA SEQUENCE; FACE DYSMORPHIA; GENE; GENE MUTATION; GENOTYPE; GROWTH RETARDATION; HUMAN; HUMAN EXPERIMENT; LOSS OF FUNCTION MUTATION; MENTAL DEVELOPMENT; MOTOR DEVELOPMENT; PAKISTAN; PATHOGENICITY; PERCEPTION DEAFNESS; TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TOOTH MALFORMATION; VENOUS BLOOD; YOUNG ADULT;

BMP; BRACHYDACTYLY; CHSY1; MUTATION; SIGNALING; SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRACHYDACTYLY; CHILD; CONSANGUINITY; CONSERVED SEQUENCE; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; MOUTH ABNORMALITIES; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINYLTRANSFERASES; PAKISTAN; PEDIGREE; TOOTH ABNORMALITIES; YOUNG ADULT;

EID: 84892508566     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.11.001     Document Type: Article

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