Associated Papers
Loss-of-Function of CLMP Is Associated With Congenital Short Bowel Syndrome and Impaired Intestinal Development.
Chen S et al.
Clinical Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS).
Rathjen FG et al.
International Journal of Molecular Sciences, 2023
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Brzezinski J et al.
British Journal of Cancer, 2021
33012783 (PubMed )
Supplement: 41416_2020_1102_MOESM7_ESM.xlsx › Sheet1
Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS.
Ou FF et al.
Frontiers in Pediatrics, 2021
Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands.
Chuang YH et al.
Frontiers in Genetics, 2020
First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene.
Gharesouran J et al.
Journal of Pediatric Genetics, 2019
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
Alves MM et al.
European Journal of Human Genetics : Ejhg, 2016
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Van Der Werf CS et al.
Gastroenterology, 2012
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