Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome-Reference-Cited by-同舟云学术

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Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome

Published:2003-11-26 Issue:3 Volume:126A Page:293-298
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

von Bubnoff Dagmar,Kreiß-Nachtsheim Martina,Novak Natalija,Engels Eva,Engels Hartmut,Behrend Claudia,Propping Peter,de la Salle Henri,Bieber Thomas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. Transverse limb defects associated with aorto-pulmonary vascular abnormalities: Vascular disruption sequence or atypical presentation of Adams-Oliver syndrome?;Al-Sannaà;Am J Med Genet,2000

2. Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies;Bavinck;Am J Med Genet,1986

3. Ring-11 chromosome: Phenotype-karyotype correlation with deletions of 11q;Cousineau;Am J Med Genet,1983

4. Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation;Engels;Eur J Hum Genet,2003

5. Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1;Fryns;Clin Genet,1986

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Jacobsen’s syndrome: case report;Allergology and Immunology in Paediatrics;2024-05-05

2. Recurrent pneumonia in a child with Jacobsen syndrome and common variable immune deficiency;Clinical Case Reports;2023-06

3. Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome;Frontiers in Immunology;2022-10-21

4. What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’;Journal of Clinical Medicine;2021-11-22

5. Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization;Genes;2021-07-31

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