Literature DB >> 20128558

Iris transillumination defects associated with pallister-killian syndrome.

Benjamin H Ticho1.   

Abstract

This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12. Copyright 2010, SLACK Incorporated.

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Year:  2010        PMID: 20128558     DOI: 10.3928/01913913-20100106-14

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  2 in total

1.  D-GPM: A Deep Learning Method for Gene Promoter Methylation Inference.

Authors:  Xingxin Pan; Biao Liu; Xingzhao Wen; Yulu Liu; Xiuqing Zhang; Shengbin Li; Shuaicheng Li
Journal:  Genes (Basel)       Date:  2019-10-14       Impact factor: 4.096

Review 2.  Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Authors:  Aurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Monica Cristina Panzaru; Sorina Mihaela Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu
Journal:  Genes (Basel)       Date:  2021-05-26       Impact factor: 4.096

  2 in total

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