| 1 |
Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3 |
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| | Yue Yang, Fang Shen, Xie-Pan Jing, Nu Zhang, Shang-Yu Xu, Dan-Dong Li, Ling-Li Zhou, Guang-Hui Bai, Huang-Yi Fang, Zhong-Ding Zhang, Chen Pang, Jian Lin, Han-Song Sheng | | | Frontiers in Surgery. 2021; 8 | | | [Pubmed] [Google Scholar] [DOI] | | | 2 |
A threshold model for polydactyly |
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| | Axel Lange,Hans L. Nemeschkal,Gerd B. Müller | | | Progress in Biophysics and Molecular Biology. 2018; 137: 1 | | | [Pubmed] [Google Scholar] [DOI] | | | 3 |
Congenital Hypothalamic “Hamartoblastoma” Versus “Hamartoma”: Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome |
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| | C Dunham,D McFadden,L Dahlgren,B Butler,S Hamilton,M McKinnon | | | Pediatric and Developmental Pathology. 2018; 21(3): 324 | | | [Pubmed] [Google Scholar] [DOI] | | | 4 |
GLI3-related polydactyly: a review |
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| | M.M. Al-Qattan,H.E. Shamseldin,M.A. Salih,F.S. Alkuraya | | | Clinical Genetics. 2017; 92(5): 457 | | | [Pubmed] [Google Scholar] [DOI] | | | 5 |
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies |
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| | Elizabeth McPherson,Christopher Cold | | | American Journal of Medical Genetics Part A. 2013; : n/a | | | [Pubmed] [Google Scholar] [DOI] | |
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