Literature DB >> 25900722

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.

Debra S Regier1, Eyby Leon2, Debra R Counts3, Cynthia J Tifft1, Dina J Zand2.   

Abstract

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Year:  2015        PMID： 25900722     DOI： 10.1002/ajmg.a.37090

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


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  2 in total

1.  Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.

Authors:  Lu Zhang; Xiaoliang Liu; Yunjing Zhao; Qingyi Wang; Yuanyuan Zhang; Haiming Gao; Bijun Zhang; Wanting Cui; Yanyan Zhao
Journal:  Ital J Pediatr       Date:  2022-07-23       Impact factor: 3.288

2.  Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.

Authors:  Olivia E Rowe; D Rangaprakash; Akila Weerasekera; Neha Godbole; Elizabeth Haxton; Peter F James; Christopher D Stephen; Robert L Barry; Florian S Eichler; Eva-Maria Ratai
Journal:  Mol Genet Metab       Date:  2021-06-24       Impact factor: 4.204
  2 in total

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