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Items: 10

1.

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

Khalifa O, Al-Sahlawi Z, Imtiaz F, Ramzan K, Allam R, Al-Mostafa A, Abdel-Fattah M, Abuharb G, Nester M, Verloes A, Al-Zaidan H.

Eur J Med Genet. 2015 May;58(5):293-9. doi: 10.1016/j.ejmg.2014.12.008. Epub 2015 Feb 13. Review.

PMID:
25682901
2.

Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome.

Roane H, Bouxsein K, Fulton C.

J Dev Phys Disabil. 2012 Aug;24(4):327-335.

3.

Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome.

Chinta S, Gupta A, Sachdeva V, Kekunnaya R.

J AAPOS. 2011 Dec;15(6):604-5. doi: 10.1016/j.jaapos.2011.07.016.

PMID:
22153411
4.

Cochlear implantation in Donnai-Barrow syndrome.

Bruce IA, Broomfield SJ, Henderson L, Green KM, Ramsden RT.

Cochlear Implants Int. 2011 Feb;12(1):60-3. doi: 10.1179/146701010X486534.

PMID:
21756462
5.

Donnai-Barrow Syndrome.

Kantarci S, Donnai D, Noonan KM, Pober BR.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Aug 28 [updated 2011 Jun 28].

6.

Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome.

Shaheen IS, Finlay E, Prescott K, Russell M, Longoni M, Joss S.

Clin Dysmorphol. 2010 Jan;19(1):35-7. doi: 10.1097/MCD.0b013e328333c20a. No abstract available.

PMID:
19952924
7.

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

Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.

Am J Med Genet A. 2008 Jul 15;146A(14):1842-7. doi: 10.1002/ajmg.a.32381.

8.

Ocular manifestations of Donnai-Barrow syndrome.

Patel N, Hejkal T, Katz A, Margalit E.

J Child Neurol. 2007 Apr;22(4):462-4.

PMID:
17621530
9.

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

Ferrero GB, Belligni E, Sorasio L, Delmonaco AG, Oggero R, Faravelli F, Pierluigi M, Silengo M.

Am J Med Genet A. 2006 Apr 15;140(8):892-4.

PMID:
16532464
10.

Donnai-Barrow syndrome: four additional patients.

Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E.

Am J Med Genet A. 2003 Sep 1;121A(3):258-62. Review.

PMID:
12923867

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