@entity2349 ( @entity2349 ) or single central incisor is a @entity4500 . It has been reported in @entity10146 ( @entity10146 ) cases with severe @entity154 or as a microform in autosomal dominant @entity10146 (ADHPE). In our review of the literature, we note that @entity2349 may also occur as an isolated finding or in association with other @entity3002 . These anomalies include @entity851 , @entity4614 , @entity4242 , @entity16453 , @entity850 , and congenital nasal pyriform aperture @entity850 . @entity2349 can also be a feature of recognized syndromes or associations or a finding in @entity1 with specific @entity2008 . We performed a molecular study on a cohort of 13 @entity2349 @entity1 who did not have @entity10146 . We studied two genes, @entity4851 and @entity25685 , in which mutations have been reported in @entity1 showing @entity2349 as part of the @entity10146 spectrum. A new missense mutation in @entity4851 ( @entity70282 ), segregating in one @entity2349 family, was identified. Our results suggest that this mutation may be specific for the @entity2349 phenotype since it has not been found in the @entity10146 population or in normal controls. Published 2001 Wiley-Liss, Inc.

@entity4851 mutation is associated with solitary median maxillary central incisor: a study of 13 XXXX and review of the literature.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity154 :: ('MESH:D000013', 'Disease') :: ['facial anomalies'] @entity25685 :: ('6496', 'Gene') :: ['SIX3'] @entity851 :: ('MESH:D006130', 'Disease') :: ['short stature'] @entity70282 :: ('p|SUB|I|111|F', 'ProteinMutation') :: ['I111F'] @entity2349 :: ('MESH:C537342', 'Disease') :: ['SMMCI', 'Solitary median maxillary central incisor'] @entity3002 :: ('MESH:D009421', 'Disease') :: ['systemic abnormalities'] @entity10146 :: ('MESH:D016142', 'Disease') :: ['HPE', 'holoprosencephaly'] @entity4614 :: ('MESH:D007018', 'Disease') :: ['pituitary insufficiency'] @entity16453 :: ('MESH:D002754', 'Disease') :: ['choanal atresia'] @entity4851 :: ('6469', 'Gene') :: ['Sonic Hedgehog (SHH)', 'SHH'] @entity4242 :: ('MESH:D008831', 'Disease') :: ['microcephaly'] @entity4500 :: ('MESH:D014071', 'Disease') :: ['rare dental anomaly'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['chromosomal abnormalities'] @entity850 :: ('MESH:D003251', 'Disease') :: ['midnasal stenosis', 'stenosis']
@entity1 :: (9606,Species) :: ['patients']
