Kaufman oculocerebrofacial syndrome: Case report-Reference-Cited by-同舟云学术

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Kaufman oculocerebrofacial syndrome: Case report

Published:1979 Issue:1 Volume:3 Page:15-19
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Jurenka Stanislava B.,Evans Jane,Optiz John M.

Publisher

Wiley

Subject

Genetics (clinical)

Reference2 articles.

1. : Diagnostic/genetic studies in severe mental retardation. In “Genetic Counselling.” New York: Raven, 1977.

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. 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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