Literature DB >> 1694631

Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.

I Buntinx1, F Majewski.   

Abstract

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Year:  1990        PMID： 1694631     DOI： 10.1002/ajmg.1320360304

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  4 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.  Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Authors:  A Moncla; N Philip; J F Mattei
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

Review 3.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

4.  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
  4 in total

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