A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference20 articles.
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2. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter;Archer;Am J Med Genet Part A,2005
3. P450 oxidoreductase deficiency and Antley-Bixler syndrome;Arlt;Rev Endocr Metab Disord,2007
4. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?;Aten;Am J Med Genet Part A,2009
5. Comparative genomic analysis of the eight-membered ring cystine knot-containing bone morphogenetic protein antagonists;Avsian-Kretchmer;Mol Edocronol,2004
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1. Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature;Molecular Genetics & Genomic Medicine;2019-10
2. Further delineation of Malan syndrome;Human Mutation;2018-06-25
3. Perinatal findings in a patient with a novel large chromosome 19p deletion;Clinical Case Reports;2018-06-21
4. Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion;American Journal of Hematology;2016-11-12
5. 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome;Molecular Cytogenetics;2016-09-22
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