Human pathology

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orofacial clefts

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Bilateral cleft lip and cleft palate
cleft lip and palate, cleft lip/palate, orofacial clefting

Types

- cleft lip
- cleft palate

Susceptibility loci

- 2q32-35 (15185170)
- 3q (12087515)
- 4q (12087515)
- 9q21 (15185170)

References

- Jugessur A, Murray JC. Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev. 2005 Jun;15(3):270-8. PMID: 15917202

- Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R73-81. PMID: 14722155

- Spritz RA. The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr. 2001 Dec;13(6):556-60. PMID: 11753106

- Aldred MA. Cleft lip and palate: new genetic clues. Trends Mol Med. 2001 Dec;7(12):539-40. PMID: 11733204

- Schutte BC, Murray JC. The many faces and factors of orofacial clefts. Hum Mol Genet. 1999;8(10):1853-9. PMID: 10469837

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