Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35817/fullpdf
Reference24 articles.
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2. Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-Lopez-Hernandez;Bowdin;Clin Dysmorphol,2007
3. Gomez-Lopez-Hernandez syndrome: Expansion of the phenotype;Brocks;Am J Med Genet,2000
4. Special issue: Elements of dysmorphology: Standard terminology;Carey;Am J Med Genet Part A,2009
5. Gomez-Lopez-Hernandez syndrome: Two new cases and review of the literature;Fernandez-Jaen;Pediatr Neurol,2009
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2. Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1;Journal of Human Genetics;2023-11-10
3. The Gomez-Lopez-Hernandez Syndrome: The Contribution of 2 Hispanic Giants of Pediatric Neurology;Journal of Child Neurology;2023-04
4. Rhombencephalo synapsis: A rare cerebellar anomaly with Gómez–López-Hernández syndrome;Journal of Pediatric Neurosciences;2023-01-30
5. Prenatal Diagnosis of Gómez-López-Hernández Syndrome;Fetal Diagnosis and Therapy;2023
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