Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference19 articles.
1. Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs;Altherr;Am J Med Genet,1997
2. Subtelomeric imbalances in phenotypically normal individuals;Balikova;Hum Mutat,2007
3. Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases;Battaglia;Pediatrics,1999
4. Wolf-Hirschhorn syndrome (WHS): A history in pictures;Battaglia;Clin Dysmorphol,2000
5. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients;Endele;Genomics,1999
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1. Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review;Frontiers in Genetics;2023-06-14
2. From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature;Italian Journal of Pediatrics;2022-05-12
3. Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome;BMC Pregnancy and Childbirth;2022-04-15
4. Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome;Molecular Neurobiology;2022-03-12
5. The delineation of the Wolf‐Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology;American Journal of Medical Genetics Part A;2021-05-18
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