Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases
Author:
Publisher
S. Karger AG
Subject
Genetics(clinical),Genetics
Reference44 articles.
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3. Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, et al: Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet 44:277-284 (2012).
4. Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, et al: Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol 14:229-249 (2018).
5. Carss KJ, Hillman SC, Parthiban V, McMullan DJ, Maher ER, et al: Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum Mol Genet 23:3269-3277 (2014).
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