First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.
Pasquier
L
L
Unité de Génétique Médicale, Hôpital SUD, Rennes, France.
Dubourg
C
C
Gonzales
M
M
Lazaro
L
L
David
V
V
Odent
S
S
Encha-Razavi
F
F
D000757:Anencephaly / Q000196:embryology / Q000473:pathology*; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D016548:Prosencephalon / Q000002:abnormalities* / Q000196:embryology; D000097607:Homeobox Protein SIX3
D005136:Eye Proteins; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D000097607:Homeobox Protein SIX3