Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis.
Baldazzi
L
L
Nicoletti
A
A
Gennari
M
M
Barbaro
M
M
Pirazzoli
P
P
Cicognani
A
A
Cacciari
E
E
Nicolettic
A
A
D005260:Female; D016368:Frameshift Mutation; D024282:Genes, sry; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D020125:Mutation, Missense; D017354:Point Mutation