Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings
Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Am J Med Genet A. 2007 May 15;143A(10):1120-5
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The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly
Debeer P, Devriendt K, De Smet L, Deravel T, Gonzalez-Meneses A, Grzeschik KH, Fryns JP. J Child Orthop. 2007 Jul;1(2):143-50. Epub 2007 May 10
Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy
Alias L, Barceló MJ, Gich I, Estapé M, Parra J, Amenedo M, Baiget M, Tizzano EF. Eur J Hum Genet. 2007 Oct;15(10):1090-3. Epub 2007 Jul 11.1
Umbilical cord stricture is not a genetic anomaly: a study in twins
Rodríguez JI, Mariño-Enríquez A, Suárez-Aguado J, Lapunzina P. Pediatr Dev Pathol. 2008 Sep-Oct;11(5):363-9. Epub 2007 Sep 25
