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Items: 3

1.
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report
Liu Jinxiu, Liang Shuimei, Xue Ming, Liu CS. Jonathan, Liu Xiangju, Duan Wenyuan
Medicine (Baltimore) 2020 Apr; 99(16): e19813. Published online 2020 Apr 17. doi: 10.1097/MD.0000000000019813
PMCID:
PMC7440326
ArticlePDF–405K
2.
A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes
David C Gershlick, Morié Ishida, Julie R Jones, Allison Bellomo, Juan S Bonifacino, David B Everman
Hum Mol Genet. 2019 May 1; 28(9): 1548–1560. Published online 2019 Jan 8. doi: 10.1093/hmg/ddy423
PMCID:
PMC6489419
ArticlePDF–46M
3.
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
B B de Vries, J P Fryns, M G Butler, F Canziani, E Wesby-van Swaay, J O van Hemel, B A Oostra, D J Halley, M F Niermeijer
J Med Genet. 1993 Sep; 30(9): 761–766. doi: 10.1136/jmg.30.9.761
PMCID:
PMC1016534
ArticlePDF–1.9M

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