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Quoted phrase not found in phrase index: "Spondylocostal dysostosis-anal and genitourinary malformations syndrome"
Page 1
Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.
Bannykh SI, Emery SC, Gerber JK, Jones KL, Benirschke K, Masliah E. Bannykh SI, et al. Am J Med Genet A. 2003 Jul 15;120A(2):241-6. doi: 10.1002/ajmg.a.20192. Am J Med Genet A. 2003. PMID: 12833407 Review.
We report two consecutive Caucasian male siblings of nonconsanguineous parents autopsied at 22 and 13 weeks gestational age both with prenatal diagnosis of Jarcho-Levin syndrome (JLS). Segmentation anomalies of the vertebrae and ribs encompass a spectrum of syndromes …
We report two consecutive Caucasian male siblings of nonconsanguineous parents autopsied at 22 and 13 weeks gestational age both with prenat …
Associated malformations in cases with congenital diaphragmatic hernia.
Stoll C, Alembik Y, Dott B, Roth MP. Stoll C, et al. Genet Couns. 2008;19(3):331-9. Genet Couns. 2008. PMID: 18990989
Of the 115 patients with the most common type of CDH, the posterolateral, or Bochdalek-type hernia, 70 (60.8%) had associated malformations. These included: chromosomal abnormalities (n = 21, 30.0%); non-chromosomal syndromes (Fryns syndrome, fetal alc …
Of the 115 patients with the most common type of CDH, the posterolateral, or Bochdalek-type hernia, 70 (60.8%) had associated malformatio …