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Heterotopia, periventricular, with frontometaphyseal dysplasia

MedGen UID:
864888
Concept ID:
C4016451
Finding
Synonym: HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA
 
OMIM®: 300017

Recent clinical studies

Etiology

Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A
Am J Hum Genet 2004 Apr;74(4):731-7. Epub 2004 Feb 25 doi: 10.1086/383094. PMID: 14988809Free PMC Article
Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group
Nat Genet 2003 Apr;33(4):487-91. Epub 2003 Mar 3 doi: 10.1038/ng1119. PMID: 12612583

Diagnosis

Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO
Eur J Hum Genet 2015 Dec;23(12):1684-8. Epub 2015 Apr 15 doi: 10.1038/ejhg.2015.31. PMID: 25873011Free PMC Article

Clinical prediction guides

Mercer CL, Andreoletti G, Carroll A, Salmon AP, Temple IK, Ennis S
Circ Cardiovasc Genet 2017 Dec;10(6) doi: 10.1161/CIRCGENETICS.116.001683. PMID: 29237676
Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L
Eur J Med Genet 2011 Jan-Feb;54(1):25-8. Epub 2010 Oct 1 doi: 10.1016/j.ejmg.2010.09.010. PMID: 20888935
Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group
Nat Genet 2003 Apr;33(4):487-91. Epub 2003 Mar 3 doi: 10.1038/ng1119. PMID: 12612583

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