Associated Papers
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction.
Jiang Q et al.
Human Genetics, 2021
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
Di Zanni E et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.
Carter TC et al.
Journal of Human Genetics, 2012
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease.
Pelet A et al.
Journal of Medical Genetics, 2005
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Seri M et al.
Human Mutation, 1997
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