Morphological analyses and a novel de novo @entity5478 mutation associated with XXXX in a Chinese family.

@entity1 @entity71136 @entity5478 @entity6661 @entity61099 @entity1463 @entity71135 @entity74 @entity2193 @entity4371
UNASSIGNED: @entity61099 , an @entity74 , affects the morphological appearance of the tooth enamel, hair, and bone. Previous studies have confirmed that mutations in the @entity5478 gene are responsible for TDO. In this study, we describe a Chinese @entity1 with the typical traits of TDO - kinky hair, @entity2193 , skull and jaw bones thickening, and @entity1463 . Unfortunately, as a result of @entity6661 , we were unable to assess @entity4371 . Examination of the tooth ground section showed a thin layer of enamel with no rods on the @entity1 's tooth and abnormalities in Tomes' granular layer and the dentinal tubules. Scanning electron microscopy and energy-dispersive X-ray spectroscopy of the tooth enamel showed significant differences between the @entity1 and the control individuals. A hair sample from the @entity1 observed under a laser-scanning microscope showed longitudinal grooves in the hair shaft. Dual-energy X-ray absorptiometry measurement showed that the bone mineral density values of the @entity1 's bones was much higher than normal. Finally, genetic analysis revealed a novel de novo missense mutation @entity71135 ( @entity71136 ) in the conserved homeodomain of the @entity5478 gene. This @entity5478 mutation is the sixth causative mutation for TDO to be identified so far.
