| 1 | FOAR, LRP2, UPD2
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| Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
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| Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.
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| Am J Med Genet A 146A(14):1842-7. 2008
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| 2 | CFNS, DLL3, EFNB1, FOAR, FRNS, GPC3, LRP2, PAMD, SCDO1, SGBS, STRA6, UNK
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| Genetic aspects of human congenital diaphragmatic hernia.
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| Pober BR.
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| Clin Genet 74(1):1-15. Epub 2008 May 28. 2008
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| 3 | LRP2, FOAR
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| Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
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| Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR.
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| Nat Genet 39(8):957-9. Epub 2007 Jul 15. 2007
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| 4 | FOAR
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| 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.
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| Devriendt K, Standaert L, Van Hole C, Devlieger H, Fryns JP.
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| J Med Genet 35(1):70-1. 1998
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