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Quoted phrase not found in phrase index: "Spondylocostal dysostosis 4, autosomal recessive"
Page 1
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
Willet CE, Makara M, Reppas G, Tsoukalas G, Malik R, Haase B, Wade CM. Willet CE, et al. PLoS One. 2015 Feb 6;10(2):e0117055. doi: 10.1371/journal.pone.0117055. eCollection 2015. PLoS One. 2015. PMID: 25659135 Free PMC article.
Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. ...A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant auto …
Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial back …
Familial Jarcho-Levin syndrome.
Romeo MG, Distefano G, Di Bella D, Mangiagli A, Caltabiano L, Roccaro S, Mollica F. Romeo MG, et al. Clin Genet. 1991 Apr;39(4):253-9. doi: 10.1111/j.1399-0004.1991.tb03023.x. Clin Genet. 1991. PMID: 2070546
Jarcho-Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the thoracic cage, leading to respiratory failure and early death. ...
Jarcho-Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis charact …
Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome).
Ramírez N, Monroig-Rivera C, De Jesús-Rojas W, Rosado E, Arciniegas Medina NJ, Cornier AS, Vélez-Bartolomei F, Johnston CE, Carlo S. Ramírez N, et al. J Bone Joint Surg Am. 2024 Mar 20;106(6):501-507. doi: 10.2106/JBJS.23.00800. Epub 2023 Dec 21. J Bone Joint Surg Am. 2024. PMID: 38127843
BACKGROUND: Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is a rare autosomal recessive disorder affecting the formation of the spine, characterized by a complete bilateral fusion of the ribs at the costovertebral …
BACKGROUND: Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is a rare autosomal …
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.
Cornier AS, Ramírez N, Arroyo S, Acevedo J, García L, Carlo S, Korf B. Cornier AS, et al. Am J Med Genet A. 2004 Jul 15;128A(2):120-6. doi: 10.1002/ajmg.a.30011. Am J Med Genet A. 2004. PMID: 15214000
Spondylothoracic dysplasia (STD, MIM#277300) is an autosomal recessive disorder with high prevalence in the Puerto Rican population. ...Since Jarcho and Levin described it in 1938, it has been referred to as spondylocostal dysplasia, costovertebral dysplasia, Jar …
Spondylothoracic dysplasia (STD, MIM#277300) is an autosomal recessive disorder with high prevalence in the Puerto Rican popul …
Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis.
Dane B, Dane C, Aksoy F, Cetin A, Yayla M. Dane B, et al. Fetal Diagn Ther. 2007;22(6):416-9. doi: 10.1159/000106345. Epub 2007 Jul 24. Fetal Diagn Ther. 2007. PMID: 17652927
Jarcho-Levin syndrome (JLS) causes severe vertebral and thoracic deformity and has an autosomal-recessive mode of inheritance. Prenatal diagnosis may be difficult in some cases without the history of an affected baby. We present 4 cases o …
Jarcho-Levin syndrome (JLS) causes severe vertebral and thoracic deformity and has an autosomal-recessive …