Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures - Concepedia

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Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

DOI Full Paper Access

110

Citations

9

References

2001

Year

Jeanne Amiel, Yolanda Espinosa‐Parrilla, Julie Steffann, Philippe Gosset, Anna Pelet, Marguerite Prieur, Odile Boute, Agnès Choiset, Didier Lacombe, Nicole Philip,

The American Journal of Human Genetics

Smadip1 Truncating MutationsDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsLarge-scale DeletionsClinical GeneticsMidline StructuresMolecular GeneticsDisease Gene IdentificationMedicineMonogenic DisordersConnective Tissue Disease

References

	Year	Citations

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