Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome.
Izumi
K
K
Culler
D
D
Solomon
Bd
B
Muenke
M
M
Parikh
As
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D053823:Hedgehog Proteins / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D046228:Microarray Analysis; D008875:Middle Aged; D014178:Translocation, Genetic
D053823:Hedgehog Proteins; C509239:SHH protein, human
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