Bardet-Biedl syndrome type 14

An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. It is variably accompanied by diabetes mellitus, hypertension and congenital heart disease. BBS is more common in mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, due a founder effect stemming from the high rate of consanguinity in these populations.

Molecular pathology
BBS14 is caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and which may regulate cilia membrane composition.

单词	bardet-biedl syndrome type 14
释义	Bardet-Biedl syndrome type 14 Bardet-Biedl syndrome type 14 An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. It is variably accompanied by diabetes mellitus, hypertension and congenital heart disease. BBS is more common in mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, due a founder effect stemming from the high rate of consanguinity in these populations. Molecular pathology BBS14 is caused by defects of CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and which may regulate cilia membrane composition.
随便看	physical properties physical properties measurement system physical properties of bone physical property physical protection system physical protocol layer physical prototyping team physical punishment physical quantities physical quantity physical random access channel physical readiness test physical readiness training physical realizability physical record physical record address physical region descriptor physical register number physical rehabilitation physical rehabilitation therapist physical research laboratory physical residual functional capacity physical residue physical resource block physical restaint