Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings-Reference-Cited by-同舟云学术

Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings

Published:2014-07-29 Issue:10 Volume:164 Page:2601-2606
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Khalifa O.¹²,Imtiaz F.³,Ramzan K.³,Allam R.³,Hemidan A. Al-⁴,Faqeih E.⁵,Abuharb G.⁶,Balobaid A.¹,Sakati N.⁷,Owain M. Al-¹⁸

Affiliation:

1. Department of Medical Genetics; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

2. Department of Pediatrics; Faculty of Medicine; Ain Shams University; Cairo Egypt

3. Department of Genetics; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

4. Section of Ophthalmology; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

5. Department of Pediatrics; King Fahad Medical City; Riyadh Saudi Arabia

6. Department of Otolaryngology/Head and Neck Surgery and Communication Sciences; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

7. Department of Pediatrics; King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

8. College of Medicine; Alfaisal University; Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36681/fullpdf

Reference19 articles.

1. Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions;Al-Owain;Am J Med Genet Part A,2012

2. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes;Annunen;Am J Hum Genet,1999

3. The Marshall and Stickler syndromes: Objective rejection of lumping;Ayme;J Med Genet,1984

4. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome;Baker;Am J Med Genet Part A,2011

5. Marshall syndrome associated with a splicing defect at the COL11A1 locus;Griffith;Am J Hum Genet,1998

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