De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study; Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T.
Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.
PMID:26833328
Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study.
Tamura S, Tamura Y, Nakamoto Y, Hasegawa D, Tsuboi M, Uchida K, Yabuki A, Yamato O.
Front Vet Sci. 2021 Dec 14;8:802668. doi: 10.3389/fvets.2021.802668. eCollection 2021.
PMID:34970622
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM.
J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18.
PMID:19542084
[Analysis of clinical features and genetic variant in a neonate with Au-Kline syndrome due to a de novo variant of the HNRNPK gene].
Chen J, Dai L, Zheng H, Liu G, Zhao Y, Wang J.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Feb 10;40(2):226-229. doi: 10.3760/cma.j.cn511391-20210524-00437.
PMID:36709946
Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.