Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
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1. Jacobsen’s syndrome: case report;Allergology and Immunology in Paediatrics;2024-05-05
2. First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25);Molecular Syndromology;2022
3. A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods;American Journal of Medical Genetics Part A;2021-09-27
4. Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization;Genes;2021-07-31
5. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1 , ETS1, and SENCR long noncoding RNA;American Journal of Medical Genetics Part A;2019-03-19
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