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Items: 4

1.
A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome
Zhen Yu, Lin Liu, Fang Jiang, Yimin Ji, Xiao Wang, Lili Liu
BMC Gastroenterol. 2022; 22: 536. Published online 2022 Dec 22. doi: 10.1186/s12876-022-02617-y
PMCID:
PMC9784088
AbstractArticlePDF–2.1M
2.
Familial cleft tongue caused by a unique translation initiation codon variant in TP63
Julia Schmidt, Gudrun Schreiber, Janine Altmüller, Holger Thiele, Peter Nürnberg, Yun Li, Silke Kaulfuß, Rudolf Funke, Bernd Wilken, Gökhan Yigit, Bernd Wollnik
Eur J Hum Genet. 2022 Feb; 30(2): 211–218. Published online 2021 Oct 11. doi: 10.1038/s41431-021-00967-x
PMCID:
PMC8821562
AbstractArticlePDF–2.0M
3.
A review of craniofacial and dental findings of the RASopathies
Haotian Cao, Najla Alrejaye, Ophir D. Klein, Alice F. Goodwin, Snehlata Oberoi
Orthod Craniofac Res. Author manuscript; available in PMC 2018 Jun 1.
Published in final edited form as: Orthod Craniofac Res. 2017 Jun; 20(Suppl 1): 32–38. doi: 10.1111/ocr.12144
PMCID:
PMC5942188
AbstractArticlePDF–1.3M
4.
Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes
Valeria Serra, Marco Castori, Mauro Paradisi, Laura Bui, Gerry Melino, Alessandro Terrinoni
Am J Med Genet A. 2011 Dec; 155(12): 3104–3109. Published online 2011 Nov 8. doi: 10.1002/ajmg.a.34335
PMCID:
PMC3306552
AbstractArticlePDF–416K

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