13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.2010.01683.x/fullpdf
Reference6 articles.
1. The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32;Brown;Am J Hum Gene,1995
2. Chromosome deletions in 13q33-34: report of four patients and review of the literature;Walczak-Sztulpa;Am J Med Gene Part A,2008
3. Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13;Garcia;J Pediatr Urol,2006
4. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress;Quélin;Eur J Med Gene,2009
5. Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development;Dravis;Dev Biol,2004
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1. From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia;Cureus;2023-09-13
2. Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias;International Journal of Molecular Sciences;2022-04-12
3. Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation;Journal of Obstetrics and Gynaecology Research;2020-07-08
4. Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype;Molecular Syndromology;2019
5. EFNB2haploinsufficiency causes a syndromic neurodevelopmental disorder;Clinical Genetics;2018-03-15
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