Literature DB >> 5006210

An oculocerebrofacial syndrome.

R L Kaufman, D L Rimoin, A L Prensky, W S Sly.   

Abstract

A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.

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Mesh:

Year:  1971        PMID: 5006210

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  5 in total

1.  Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Authors:  Lina Basel-Vanagaite; Rüstem Yilmaz; Sha Tang; Miriam S Reuter; Nils Rahner; Dorothy K Grange; Megan Mortenson; Patrick Koty; Heather Feenstra; Kelly D Farwell Gonzalez; Heinrich Sticht; Nathalie Boddaert; Julie Désir; Kwame Anyane-Yeboa; Christiane Zweier; André Reis; Christian Kubisch; Tamison Jewett; Wenqi Zeng; Guntram Borck
Journal:  Hum Genet       Date:  2014-03-11       Impact factor: 4.132

2.  Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Authors:  Carlos R Ferreira; Debra S Regier; Donald W Hadley; P Suzanne Hart; Maximilian Muenke
Journal:  Mol Genet Genomic Med       Date:  2017-07-16       Impact factor: 2.183

3.  Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Authors:  Ariana Kariminejad; Norbert Fonya Ajeawung; Bita Bozorgmehr; Alexandre Dionne-Laporte; Sirinart Molidperee; Kimia Najafi; Richard A Gibbs; Brendan H Lee; Raoul C Hennekam; Philippe M Campeau
Journal:  J Hum Genet       Date:  2016-12-22       Impact factor: 3.172

Review 4.  Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases.

Authors:  Mateusz C Ambrozkiewicz; Katherine J Cuthill; Dermot Harnett; Hiroshi Kawabe; Victor Tarabykin
Journal:  Cells       Date:  2020-11-10       Impact factor: 6.600

5.  Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Authors:  Elisabetta Flex; Andrea Ciolfi; Viviana Caputo; Valentina Fodale; Chiara Leoni; Daniela Melis; Maria Francesca Bedeschi; Laura Mazzanti; Antonio Pizzuti; Marco Tartaglia; Giuseppe Zampino
Journal:  J Med Genet       Date:  2013-05-17       Impact factor: 6.318

  5 in total

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