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MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
Hum Mutat. 2008 May;29(5):584-94. doi: 10.1002/humu.20706.
Hum Mutat. 2008.
PMID: 18360914
However, although a specific mutation cannot entirely account for the observed phenotype, we observed preferential association between some types of mutation and specific clinical manifestations, e.g., brain anatomical defects and truncating mutations. ...
However, although a specific mutation cannot entirely account for the observed phenotype, we observed preferential association …
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease.
Cheng YK, Huang J, Law KM, Chan YM, Leung TY, Choy KW.
Cheng YK, et al.
Clin Chim Acta. 2014 Sep 25;436:140-2. doi: 10.1016/j.cca.2014.05.006. Epub 2014 May 23.
Clin Chim Acta. 2014.
PMID: 24863803
RESULTS: Fetal DNA chip revealed a 48Kb single copy number loss within chromosome region Xp22.2 (arr[hg18]Xp22.2(10,627,354-10,675,946)x0 mat). This deletion included the 3' UTR region of the MID1 gene predicted to cause the X-linked Opitz G/ …
RESULTS: Fetal DNA chip revealed a 48Kb single copy number loss within chromosome region Xp22.2 (arr[hg18]Xp22.2(10,627,354-10,675,946)x0 ma …
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