Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for aSCARF2microdeletion-Reference-Cited by-同舟云学术

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for aSCARF2microdeletion

Published:2014-01-29 Issue:5 Volume:164 Page:1170-1174
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Migliavacca Michele P.¹,Sobreira Nara L. M.²,Antonialli Graziela P.M.¹,Oliveira Mariana M.³,Melaragno Maria Isabel S.A.³,Casteels Ingele⁴,de Ravel Thomy⁵,Brunoni Decio¹,Valle David²,Perez Ana Beatriz A.¹

Affiliation:

1. Clinical Genetics, Department of Morphology and Genetics; UNIFESP; São Paulo Brazil

2. Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore MD

3. Laboratory of Cytogenetics, Genetics; Department of Morphology and Genetics; UNIFESP; São Paulo Brazil

4. Department of Pediatric Ophthalmology; University Hospitals Leuven; Leuven Belgium

5. Centre for Human Genetics; UZ Leuven Gasthuisberg Campus; Leuven Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Further delineation of the Van den Ende-Gupta syndrome;Ali;Am J Med Genet Part A,2010

2. Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome;Anastasio;Am J Hum Genet,2010

3. Unmasking of a recessive SCARF2 mutation by a 22q11. 12 de novo deletion in a patient with Van den Ende-Gupta syndrome;Bedeschi;Mol Syndromol,2010

4. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome;Binenbaum;Am J Med Genet Part A,2008

5. Van Den Ende-Gupta syndrome: Laryngeal abnormalities in two siblings;Carr;Am J Med Genet Part A,2007

Cited by 13 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. Exploring scavenger receptor class F member 2 and the importance of scavenger receptor family in prediagnostic diseases;Toxicological Research;2023-04-14

2. Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review;Clinical Dysmorphology;2022-03-07

3. Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome;American Journal of Medical Genetics Part A;2022-02-28

4. Insights into the ligand binding specificity of SREC‐II (scavenger receptor expressed by endothelial cells);FEBS Open Bio;2021-09-12

5. Clinical and genetic findings in patients with congenital cataract and heart diseases;Orphanet Journal of Rare Diseases;2021-05-31