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

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-08, Vol.167A (8), p.1944-1948
Main Authors: Regier, Debra S., Leon, Eyby, Counts, Debra R., Tifft, Cynthia J., Zand, Dina J.
Format: Article
Language:English
Subjects:
Chromosomes, Human, Pair 15
Female
Gangliosidoses, GM2 - diagnosis
Gangliosidoses, GM2 - genetics
Humans
Male
Prader-Willi Syndrome - diagnosis
Prader-Willi Syndrome - genetics
Uniparental Disomy
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37090