Delineation of a Recognisable Phenotype of Interstitial Deletion 3 (q22.3q25.1) in a Case with Previously Unreported Truncus Arteriosus
European Journal of Medical Genetics（2010）
Key words
Microcephaly,Interstitial deletion,del(3),(q22.3q25.1),Truncus arteriosus,Microphthalmia,Developmental delay,Short palpebral fissures,Blepharophimosis,Ptosis,Epicanthus inversus,Asymmetric ears,FOXL2
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