Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation-Reference-Cited by-同舟云学术

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Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

Published:2008-04-23 Issue:2 Volume:44 Page:98-101
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Figuera L. E.,Garcia-Cruz D.,Ramirez-Dueñas M. L.,Rivera-Rables V.,Cantù J. M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1993.tb03855.x/fullpdf

Reference5 articles.

1. Kaufman oculocerebrofacial syndrome in a 15-year-old girl;Briscioli;Am J Hum Genet,1991

2. Kaufman oculocerebrofacial syndrome: a corroborative case;García-Cruz;Dysmorph Clin Genet,1988

3. Kaufman oculocerebrofacial syndrome: case report;Jurenka;Am J Med Genet,1979

4. An oculocerebrofacial syndrome;Kaufman;Birth Defects: Original Article Series,1971

Cited by 10 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. Okulozerebrofaziales Syndrom, Typ Kaufman;Monatsschrift Kinderheilkunde;2024-03-05

2. Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report;Clinical Medicine Insights: Pediatrics;2023-01

3. Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review;Clinical Dysmorphology;2019-10

4. Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients;American Journal of Medical Genetics Part A;2017-11-21

5. Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation inUBE3B;American Journal of Medical Genetics Part A;2015-02-18

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