Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia-Reference-Cited by-同舟云学术

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia

Published:2009-11-13 Issue:2 Volume:127 Page:231-241
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Connell Fiona, ,Kalidas Kamini,Ostergaard Pia,Brice Glen,Homfray Tessa,Roberts Lesley,Bunyan David J.,Mitton Sally,Mansour Sahar,Mortimer Peter,Jeffery Steve

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-009-0766-y.pdf

Reference27 articles.

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97–101

2. Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan R (2003) Further delineation of Hennekam syndrome. Clin Dysmorphol 12:227–232

3. Angle B, Hersh JH (1997) Expansion of the phenotype in Hennekam syndrome: a case with new manifestations. Am J Med Genet 71:211–214

4. Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S (2001) Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. Hum Genet 108:546–551

5. Brice G, Mansour S, Bell R, Collin JR, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA (2002) Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 39:478–483

Cited by 85 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. Congenital Diarrhoeas and Enteropathies;Nutrients;2024-09-03

2. Disorders Affecting Cutaneous Vasculature;Rook's Textbook of Dermatology;2024-03-19

3. The role of key biomarkers in lymphatic malformation: An updated review;The Journal of Gene Medicine;2024-02

4. Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency;Journal of Investigational Allergy and Clinical Immunology;2023-12-11

5. Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways;International Journal of Molecular Sciences;2022-07-03