Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

No abstract is available for this paper.

• Publication year

  2018

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2018-01-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.a.38538PMID 29160006
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Oculo-cerebro-facial syndrome, Kaufman type].

  2020cited by this paper
• DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome

  2017cited by this paper
• Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

  2016influential reference
• Diagnosis of Van den Ende–Gupta syndrome: Approach to the Marden–Walker‐like spectrum of disorders

  2016cited by this paper
• Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

  2015influential reference
• Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

  2014cited by this paper
• Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.

  2014cited by this paper
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  2014influential reference
• Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

  2013influential reference
• De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome

  2013cited by this paper
• Mutations in MED12 cause X-linked Ohdo syndrome.

  2013cited by this paper
• KAT6B-Related Disorders

  2013cited by this paper
• Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

  2012cited by this paper
• De Novo Interstitial Deletion of 3q22.3-q25.2 Encompassing FOXL2, ATR, ZIC1, and ZIC4 in a Patient With Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Global Developmental Delay

  2011influential reference
• The difficult nosology of blepharophimosis–mental retardation syndromes: Report on two siblings

  2011cited by this paper
• The role of ubiquitylation in nerve cell development

  2011cited by this paper
• Structure of the HECT:ubiquitin complex and its role in ubiquitin chain elongation

  2011cited by this paper
• Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

  2008cited by this paper
• Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive

  2006cited by this paper
• Interstitial deletion in 3q in a patient with blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature

  2005influential reference
• van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: Clinical delineation and recurrence in brothers

  2003cited by this paper
• Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

  2003cited by this paper
• Chromosomal duplications in bacteria, fruit flies, and humans.

  1996cited by this paper
• Kaufman oculocerebrofacial syndrome in a girl of 15 years.

  1995cited by this paper
• Two additional cases of the Ohdo blepharophimosis syndrome.

  1993cited by this paper
• Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

  1993cited by this paper
• Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome).

  1991cited by this paper
• Kaufman oculocerebrofacial syndrome: case report.

  1979cited by this paper
• A rare type of low birthweight dwarfism: The Dubowitz syndrome

  1975cited by this paper
• An oculocerebrofacial syndrome.

  1971cited by this paper

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  2022cites this paper
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  2021cites this paper
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  2021cites this paper
• The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc

  2020cites this paper
• HECT E3 ubiquitin ligases – emerging insights into their biological roles and disease relevance

  2020cites this paper
• Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

  2020influential citation
• Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.

  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2018cites this paper