Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3-Reference-Cited by-同舟云学术

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3

Published:2015-07-20 Issue:11 Volume:167 Page:2508-2515
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kariminejad Ariana¹,Nafissi Shahriar²,Nilipoor Yalda³,Tavasoli Alireza⁴,Van Veldhoven Paul P.⁵,Bonnard Carine⁶,Ng Yeng Ting⁶,Majoie Charles B.⁷,Reversade Bruno⁶,Hennekam Raoul C.⁸

Affiliation:

1. Kariminejad-Najmabadi Pathology & Genetics Center; Tehran Iran

2. Department of Neurology; Shariati Hospital; Tehran University of Medical Sciences; Tehran Iran

3. Pediatric Pathology Research Center; Mofid Children's Hospital; Shahid Beheshti Medical University; Tehran Iran

4. Department of Pediatric Neurology; Pediatrics Centre of Excellence; Children's Medical Centre; Tehran University of Medical Sciences; Tehran Iran

5. Department of Cellular Molecular Medicine; LIPIT; KU Leuven; Leuven Belgium

6. Institute of Medical Biology; A*STAR; Singapore

7. Department of Radiology; Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

8. Department of Pediatrics; Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

Funder

Agency for Science, Technology and Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37248/fullpdf

Reference15 articles.

1. Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation;Böhm;Orphanet J Rare Dis,2010

2. Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation;Claeys;Neurology,2010

3. Rubinstein-Taybi syndrome;Hennekam;Eur J Hum Genet,2006

4. Cohen syndrome: Essential features, natural history, and heterogeneity;Kivitie-Kallio;Am J Med Genet,2001

5. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins;Lain;Eur J Med Genet,2011

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