Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature

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Bibliographic Details
Published inAmerican Journal of Medical Genetics Part A Vol. 137A; no. 1; pp. 81 - 87
Main Authors de Ru, M.H., Gille, J.J.P., Nieuwint, A.W.M., Bijlsma, J.B., van der Blij, J.F., van Hagen, J.M.
Format Report
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.08.2005
Subjects
3q23
ATR
blepharophimosis
BPES
contiguous gene syndrome
epicanthus inversus syndrome
FOXL2
growth delay
interstitial deletion
mental retardation
microcephaly
ptosis
Seckel syndrome
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Bibliography:ark:/67375/WNG-DZDTLP2H-S
istex:A6AC9279EC49D5FE62BBA41866FDAAAA3BEB9EE9
ArticleID:AJMG30786
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30786