Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.
Center for Genetic Counseling and Reproductive Teratology, Maternal and Child Health Department, Garibaldi Nesima Hospital, Catania, Italy.
Chiara
C
Barone
Giovanni
G
Bartoloni
A Maria
AM
Baffico
Elisa
E
Pappalardo
Isabella
I
Mura
Giuseppe
G
Ettore
Sebastiano
S
Bianca
D001483:Base Sequence; D055036:Campomelic Dysplasia / Q000000981:diagnostic imaging* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D025202:Molecular Diagnostic Techniques; D017354:Point Mutation; D055758:SOX9 Transcription Factor / Q000235:genetics*; D016216:Ultrasonography, Prenatal
D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human