Spondylocostal Dysostosis, Autosomal Recessive.
Turnpenny PD, Sloman M, Dunwoodie S.
2009 Aug 25 [updated 2023 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
Yonekawa T, Nishino I.
J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):280-7. doi: 10.1136/jnnp-2013-307052. Epub 2014 Jun 17.
Stat3 loss in mesenchymal progenitors causes Job syndrome-like skeletal defects by reducing Wnt/beta-catenin signaling.
Yadav PS, Feng S, Cong Q, Kim H, Liu Y, Yang Y.
Proc Natl Acad Sci U S A. 2021 Jun 29;118(26):e2020100118. doi: 10.1073/pnas.2020100118.
BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.
Zong Z, Tees S, Miyanji F, Fauth C, Reilly C, Lopez E, Tredwell S, Paul Goldberg Y, Delaney A, Eydoux P, Van Allen M, Lehman A.
J Hum Genet. 2015 Dec;60(12):743-7. doi: 10.1038/jhg.2015.116. Epub 2015 Oct 15.
Neurofibromin (Nf1) is required for skeletal muscle development.
Kossler N, Stricker S, Rödelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kühnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M.
Hum Mol Genet. 2011 Jul 15;20(14):2697-709. doi: 10.1093/hmg/ddr149. Epub 2011 Apr 9.
The differently expressed proteins in MSCs of degenerative scoliosis.
Han S, Zhu Y, Wu Z, Zhang J, Qiu G.
J Orthop Sci. 2013 Nov;18(6):885-92. doi: 10.1007/s00776-013-0444-8. Epub 2013 Aug 10.
Generation of heterozygous and homozygous NF1 lines from human-induced pluripotent stem cells using CRISPR/Cas9 to investigate bone defects associated with neurofibromatosis type 1.
Darle A, Mahiet T, Aubin D, Doyen M, El Kassar L, Parfait B, Lemaitre G, Baldeschi C, Allouche J, Holic N.
Front Cell Dev Biol. 2024 Feb 28;12:1359561. doi: 10.3389/fcell.2024.1359561. eCollection 2024.
Osmotic and Heat Stress Effects on Segmentation.
Weiss J, Devoto SH.
PLoS One. 2016 Dec 22;11(12):e0168335. doi: 10.1371/journal.pone.0168335. eCollection 2016.
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF.
Orphanet J Rare Dis. 2015 Mar 7;10:27. doi: 10.1186/s13023-015-0235-8.
Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.
Vlangos CN, Siuniak A, Ackley T, van Bokhoven H, Veltman J, Iyer R, Park JM, Keppler-Noreuil K, Keegan CE.
Am J Med Genet A. 2011 Jan;155A(1):38-49. doi: 10.1002/ajmg.a.33757.
