Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.
Huang
Jia
J
Hoffman
Jodi D
JD
Zhang
Yi
Y
Maisenbacher
Melissa K
MK
Zackai
Elaine H
EH
Weber
Barbara L
BL
Ming
Jeffrey E
JE
D002872:Chromosome Deletion; D005260:Female; D053823:Hedgehog Proteins; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D015534:Trans-Activators / Q000032:analysis / Q000235:genetics*
D053823:Hedgehog Proteins; C509239:SHH protein, human; D015534:Trans-Activators