Literature DB >> 4626128

Syndrome of ocular and facial anomalies, telecanthus, and deafness.

L B Holmes, C L Schepens.   

Abstract

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Year:  1972        PMID： 4626128     DOI： 10.1016/s0022-3476(72)80189-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  6 in total

1.  Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Authors:  Sibel Kantarci; Nicola K Ragge; N Simon Thomas; David O Robinson; Kristin M Noonan; Meaghan K Russell; Dian Donnai; F Lucy Raymond; Christopher A Walsh; Patricia K Donahoe; Barbara R Pober
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

2.  Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

Authors:  K Devriendt; L Standaert; C Van Hole; H Devlieger; J P Fryns
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

3.  Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Authors:  Molka Kammoun; Paul Brady; Luc De Catte; Jan Deprest; Koenraad Devriendt; Joris Robert Vermeesch
Journal:  Eur J Hum Genet       Date:  2018-01-22       Impact factor: 4.246

Review 4.  A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

Authors:  Barbara R Pober; Mauro Longoni; Kristin M Noonan
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-01

Review 5.  Genetic aspects of human congenital diaphragmatic hernia.

Authors:  B R Pober
Journal:  Clin Genet       Date:  2008-05-28       Impact factor: 4.438

6.  Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Authors:  Sibel Kantarci; Lihadh Al-Gazali; R Sean Hill; Dian Donnai; Graeme C M Black; Eric Bieth; Nicolas Chassaing; Didier Lacombe; Koen Devriendt; Ahmad Teebi; Maria Loscertales; Caroline Robson; Tianming Liu; David T MacLaughlin; Kristin M Noonan; Meaghan K Russell; Christopher A Walsh; Patricia K Donahoe; Barbara R Pober
Journal:  Nat Genet       Date:  2007-07-15       Impact factor: 38.330
  6 in total

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