Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder-Reference-Cited by-同舟云学术

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder

Published:2016-06-29 Issue:11 Volume:24 Page:1627-1629
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Alves Maria M,Halim Danny,Maroofian Reza,de Graaf Bianca M,Rooman Raoul,van der Werf Christine S,Van de Vijver Els,Mehrjardi Mohammad YV,Aflatoonian Majid,Chioza Barry A,Baple Emma L,Dehghani Mohammadreza,Crosby Andrew H,Hofstra Robert MW

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201658.pdf

Reference9 articles.

1. Moore KL, Persaud TVN : The Developing Human: Clinically Oriented Embryology. Philadelphia: Saunders, 2003.

2. van der Werf CS, Halim D, Verheij JB, Alves MM, Hofstra RM : Congenital short bowel syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation. Biochim Biophys Acta 2015; 1852: 2352–2361.

3. Hamilton JR, Reilly BJ, Morecki R : Short small intestine associated with malrotation: a newly described congenital cause of intestinal malabsorption. Gastroenterology 1969; 56: 124–136.

4. Howard L, Ament M, Fleming CR, Shike M, Steiger E : Current use and clinical outcome of home parenteral and enteral nutrition therapies in the United States. Gastroenterology 1995; 109: 355–365.

5. van der Werf CS, Wabbersen TD, Hsiao NH et al: CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology 2012; 142: 453–462.

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