The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer.

doi:10.3390/genes15111475

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Article

The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer.

Genes - 15 Nov 2024

Gossner Lea, Rieder Dietmar, Müller Thomas, Janecke Andreas R

Abstract excerpt

Objective: Congenital, non-syndromic orofacial clefts (CL/P) are infrequently monogenic in etiology. However, heterozygous pathogenic CDH1 germline variants were reported in a few non-syndromic CL/P families, as well as in one syndromic form of CL/P: the blepharocheilodontic syndrome. CDH1 encode...

Topics

Humans
Cadherins
Male
Female
Cleft Palate
Cleft Lip
Adult
Middle Aged
Antigens, CD
Pedigree
Aged
Genetic Predisposition to Disease
Germ-Line Mutation
Exome Sequencing
Phenotype
Mutation
Stomach Neoplasms

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