Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Kabuki syndrome: new ocular findings but no evidence of 8p22-p23 1 duplications in a clinically defined cohort Turner C; Lachlan K; Amerasinghe N; Hodgkins P; Maloney V; Barber J; Temple IKEur J Hum Genet 2005[Jun]; 13 (6): 716-20The underlying cause of the multiple congenital anomalies/mental retardation syndrome Kabuki syndrome (KS, OMIM 147920) has not yet been established. We identified seven patients who fulfilled the classical clinical criteria for this syndrome and undertook a detailed clinical, ophthalomological and molecular cytogenetic review. Three of the seven patients had previously undetected ocular anomalies including myopia, ptosis, strabismus and tilted discs. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of KS patients. Using BAC fluorescence in situ hybridisation, there was no evidence of the duplication of 8p recently reported by Milunsky and Huang. We conclude that the cause of KS has yet to be established.|*Chromosomes, Human, Pair 8[MESH]|Abnormalities, Multiple/*genetics[MESH]|Adolescent[MESH]|Child[MESH]|Child, Preschool[MESH]|Chromosome Aberrations[MESH]|Eye Abnormalities/genetics[MESH]|Female[MESH]|Humans[MESH]|Intellectual Disability/*genetics[MESH]|Male[MESH]|Syndrome[MESH]|Vision Disorders/genetics[MESH] |