Literature DB >> 23950073

Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies.

Elizabeth McPherson1, Christopher Cold.   

Abstract

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Mesh：

Year:  2013        PMID： 23950073     DOI： 10.1002/ajmg.a.36117

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

Review 1.  Lineage-specific roles of hedgehog-GLI signaling during mammalian kidney development.

Authors:  Robert D'Cruz; Katryna Stronks; Christopher J Rowan; Norman D Rosenblum
Journal:  Pediatr Nephrol       Date:  2019-03-28       Impact factor: 3.714

2.  Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.

Authors:  Joshua Blake; Di Hu; Jason E Cain; Norman D Rosenblum
Journal:  Hum Mol Genet       Date:  2015-11-24       Impact factor: 6.150

3.  Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome.

Authors:  Alysse J Sever; Michael D Koets; Gauravi K Sabharwal
Journal:  Radiol Case Rep       Date:  2015-10-24
  3 in total

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